Allele Registry

Canonical Allele Identifier: PA916054992

Gene: PMP22 HGNC NCBI

ClinVar RCV:

RCV000517784

ClinVar Variation:

448093

HGVS (amino-acid)	Matching Registered Transcripts
NP_696997.1:p.Ser22Tyr	CA398271674 NM_153322.3:c.65C>A