Allele Registry

Canonical Allele Identifier: PA645381169

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000486736

ClinVar Variation:

419501

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2281Ala	CA16617982 NM_000094.4:c.6842G>C