Allele Registry

Canonical Allele Identifier: PA2741811588

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV003570023

ClinVar Variation:

2762341

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Asn1841Lys	CA352671685 NM_000094.4:c.5523T>G CA352671693 NM_000094.4:c.5523T>A