Allele Registry

Canonical Allele Identifier: PA645380560

Gene: COL7A1 HGNC NCBI

ClinVar Variation Id: 345878

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Arg450Cys	CA2381245 NM_000094.4:c.1348C>T