Canonical Allele Identifier: PA2830324107
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 1450928
ClinVar RCV Id: RCV001993005
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_696997.1:p.Glu160_Ter161insArgGlyAlaGlnThrValCysLeuArgLeu
CA398739417
NM_153322.3:c.481T>A
CA398739418
NM_153322.3:c.481T>C