Allele Registry

Canonical Allele Identifier: PA2827328716

Gene: PMP22 HGNC NCBI

ClinVar RCV:

RCV000195195

RCV000790172

ClinVar Variation:

208243

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317072.1:p.Trp39Cys	CA347450 NM_001330143.2:c.117G>C CA398271013 NM_001330143.2:c.117G>T