Allele Registry

Canonical Allele Identifier: PA099528

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000018993

RCV000022474

ClinVar Variation:

17443

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly1595Arg	CA128521 NM_000094.4:c.4783G>C