Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: PMP22 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000501580.1:p.His148Gln	CA398739482 ENST00000674947.1:c.444T>G CA398739484 ENST00000674947.1:c.444T>A