Allele Registry

Canonical Allele Identifier: PA645380898

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000424969

ClinVar Variation:

379309

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly1764Ala	CA16604608 NM_000094.4:c.5291G>C