Allele Registry

Canonical Allele Identifier: PA100061

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000018975

ClinVar Variation:

17429

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2623Cys	CA127188 NM_000094.4:c.7867G>T