Allele Registry

Canonical Allele Identifier: PA099493

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000018987

ClinVar Variation:

17437

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly1519Asp	CA257942 NM_000094.4:c.4556G>A