Allele Registry

Canonical Allele Identifier: PA916055134

Gene: PMP22 HGNC NCBI

ClinVar RCV:

RCV000023073

RCV000790261

ClinVar Variation:

8441

HGVS (amino-acid)	Matching Registered Transcripts
NP_696997.1:p.Ala115_Thr118del	CA259752 NM_153322.3:c.344_355del