Allele Registry

Canonical Allele Identifier: PA2830322982

Gene: PMP22 HGNC NCBI

ClinVar RCV:

RCV000517784

ClinVar Variation:

448093

HGVS (amino-acid)	Matching Registered Transcripts
NP_696996.1:p.Ser22Tyr	CA398271674 NM_153321.3:c.65C>A