Allele Registry

Canonical Allele Identifier: PA645380577

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000415424

RCV002524663

RCV003387838

ClinVar Variation:

373954

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Arg481His	CA2381209 NM_000094.4:c.1442G>A