Allele Registry

Canonical Allele Identifier: PA2499265148

Gene: HERC1 HGNC NCBI

ClinVar RCV:

RCV001645627

RCV001702942

ClinVar Variation:

1243466

HGVS (amino-acid)	Matching Registered Transcripts
NP_003913.3:p.Glu3722Asp	CA7604299 NM_003922.4:c.11166G>C CA392749826 NM_003922.4:c.11166G>T