Allele Registry

Canonical Allele Identifier: PA645381342

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000487447

RCV002506182

ClinVar Variation:

424628

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2760Arg	CA16621527 NM_000094.4:c.8278G>A CA352638752 NM_000094.4:c.8278G>C