Allele Registry

Canonical Allele Identifier: PA099726

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000018997

RCV000335209

RCV000850543

RCV001831585

RCV003883119

ClinVar Variation:

17446

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2031Ser	CA257946 NM_000094.4:c.6091G>A