Allele Registry

Canonical Allele Identifier: PA2826623493

Gene: PMP22 HGNC NCBI

ClinVar RCV:

RCV000023073

RCV000790261

ClinVar Variation:

8441

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268384.1:p.Ala115_Thr118del	CA259752 NM_001281455.2:c.344_355del