Allele Registry

Canonical Allele Identifier: PA2830322952

Gene: PMP22 HGNC NCBI

ClinVar RCV:

RCV000008940

RCV000685070

ClinVar Variation:

8428

HGVS (amino-acid)	Matching Registered Transcripts
NP_696996.1:p.Leu16Pro	CA340784 NM_153321.3:c.47T>C