Canonical Allele Identifier: PA2830323387
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 1306580
ClinVar RCV Id: RCV001770760

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_696996.1:p.Ser131Tyr
CA398739651
NM_153321.3:c.392C>A