Canonical Allele Identifier: PA2826623502
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 426791
ClinVar RCV Id: RCV000490010 RCV001348768 RCV002455951
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268384.1:p.Pro122Leu
CA8403316
NM_001281455.2:c.365C>T