Allele Registry

Canonical Allele Identifier: PA099965

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000018984

RCV000018985

RCV000018986

ClinVar Variation:

17436

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2251Glu	CA127192 NM_000094.4:c.6752G>A