Allele Registry

Canonical Allele Identifier: PA645380934

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000413574

RCV002502440

ClinVar Variation:

372342

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly1907Asp	CA16042529 NM_000094.4:c.5720_5721delinsAT