Allele Registry

Canonical Allele Identifier: PA645381004

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000440486

ClinVar Variation:

379224

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2034Ala	CA16604944 NM_000094.4:c.6101G>C