Canonical Allele Identifier: PA2826623529
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 448091
ClinVar RCV Id: RCV000518626 RCV000658337 RCV001851451
ClinVar Variation Id: 637842
ClinVar RCV Id: RCV000790173 RCV001064771 RCV002269313 RCV003483723
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268384.1:p.Trp140Arg
CA398739582
NM_001281455.2:c.418T>C
CA398739583
NM_001281455.2:c.418T>A