Allele Registry

Canonical Allele Identifier: PA2580106588

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV002957405

ClinVar Variation:

2059966

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Arg1482Trp	CA2380014 NM_000094.4:c.4444C>T