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HGVS search - ClinGen - replace reference base #1137

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davmlaw opened this issue Aug 13, 2024 · 0 comments
Open

HGVS search - ClinGen - replace reference base #1137

davmlaw opened this issue Aug 13, 2024 · 0 comments
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ClinGen HGVS Reference base search

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@davmlaw
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davmlaw commented Aug 13, 2024

At the moment we always send what we have

Example is "ENST00000642385.2:c.802T>C"

Should have been:

ENST00000642385.2:c.802A>C
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