Allele Registry

Canonical Allele Identifier: PA099696

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV003555069

ClinVar Variation:

2734512

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2025Ala	CA2379203 NM_000094.4:c.6074G>C