Allele Registry

Canonical Allele Identifier: PA645381156

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000413930

ClinVar Variation:

372763

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2257Ala	CA16042516 NM_000094.4:c.6770G>C