Allele Registry

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Canonical Allele Identifier: PA916055165

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_696997.1:p.Trp140Arg	CA398739582 NM_153322.3:c.418T>C CA398739583 NM_153322.3:c.418T>A