Allele Registry

Canonical Allele Identifier: PA645381059

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000413184

ClinVar Variation:

372343

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Glu2059Gly	CA16042528 NM_000094.4:c.6176A>G