Allele Registry

Canonical Allele Identifier: PA645381300

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000415010

RCV001198317

ClinVar Variation:

374053

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2683Ser	CA16043399 NM_000094.4:c.8047G>A