Allele Registry

Canonical Allele Identifier: PA915956610

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000954396

RCV001150682

RCV001272619

RCV002502959

RCV003935831

ClinVar Variation:

774420

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Arg1120Lys	CA2380554 NM_000094.4:c.3359G>A