Allele Registry

Canonical Allele Identifier: PA645380829

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000435098

ClinVar Variation:

379307

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly1557Glu	CA16604947 NM_000094.4:c.4670G>A