Allele Registry

Canonical Allele Identifier: PA645380933

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000412944

RCV000761300

RCV003972554

ClinVar Variation:

372341

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly1869Arg	CA16042520 NM_000094.4:c.5605G>C