Allele Registry

Canonical Allele Identifier: PA100177

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000018969

RCV003556045

ClinVar Variation:

17423

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Met2798Lys	CA257933 NM_000094.4:c.8393T>A