Allele Registry

Canonical Allele Identifier: PA2580106589

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV002580625

ClinVar Variation:

1905108

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly1483Ala	CA352691389 NM_000094.4:c.4448G>C