Canonical Allele Identifier: PA2827328767
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 8433
ClinVar RCV Id: RCV000008948 RCV000489163 RCV000456500 RCV000622525 RCV001729342
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317072.1:p.Ser72Leu
CA119620
NM_001330143.2:c.215C>T