Canonical Allele Identifier: PA2827328637
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 8434
ClinVar RCV Id: RCV000008949 RCV000168060 RCV000622783 RCV000790177 RCV001195890
ClinVar Variation Id: 2044604
ClinVar RCV Id: RCV002900303
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317072.1:p.His12Gln
CA119622
NM_001330143.2:c.36C>A
CA398271729
NM_001330143.2:c.36C>G