Canonical Allele Identifier: PA2830323352
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 8431
ClinVar RCV Id: RCV000008945 RCV000008946 RCV000032119 RCV000194789 RCV000197572 RCV000224441 RCV001027473 RCV001507314
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_696996.1:p.Thr118Met
CA119616
NM_153321.3:c.353C>T