Allele Registry

Canonical Allele Identifier: PA2830323338

Gene: PMP22 HGNC NCBI

ClinVar Allele:

23480

ClinVar RCV:

RCV000023073

RCV000790261

ClinVar Variation:

8441

HGVS (amino-acid)	Matching Registered Transcripts
NP_696996.1:p.Ala115_Thr118del	CA259752 NM_153321.3:c.344_355del