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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268385.1:p.Phe83Leu
CA398268012
NM_001281456.2:c.249C>G
CA398268014
NM_001281456.2:c.249C>A
CA398268024
NM_001281456.2:c.247T>C