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Canonical Allele Identifier: Get Identifier
Gene: PMP22 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000494871.1:p.[Leu2_Phe20delinsHisAlaProProValAlaGluTyrHisArgProProArgArgGlyAlaGlyAlaAla;Ser22_Ser26delinsArgLeuHisAspArg;Trp28_Val30delinsProMetAspArg]
CA2695224352
ENST00000646419.2:c.1_4dup