Allele Registry

Canonical Allele Identifier: PA645380837

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000417818

ClinVar Variation:

379308

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly1643Asp	CA16604481 NM_000094.4:c.4928G>A