Allele Registry

Canonical Allele Identifier: PA2741811589

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV003842596

ClinVar Variation:

2989965

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly1842Arg	CA352671670 NM_000094.4:c.5524G>C CA352671675 NM_000094.4:c.5524G>A