Canonical Allele Identifier: PA2830323456
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 8444
ClinVar RCV Id: RCV000008957 RCV000193053 RCV000778488 RCV001332355 RCV001173916 RCV001229968
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_696996.1:p.Arg157Trp
CA119628
NM_153321.3:c.469C>T