Allele Registry

Canonical Allele Identifier: PA257964

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000019010

RCV000255683

RCV001831586

ClinVar Variation:

17459

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Arg2471Ter