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Canonical Allele Identifier: Get Identifier
Gene: PMP22 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501580.1:p.[Ala180_Asp181del;Lys184_Ser187delinsLeuAlaGlnAsn;Ser190_Thr194delinsLeu;Arg198_Trp203delinsGlnThrGluSerSerGly;Leu205_Asn213delinsGlyGlyCysCys]
CA8403276
ENST00000674947.1:c.538_550del