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Canonical Allele Identifier: Get Identifier
Gene: MPZ HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000488104.2:p.[Leu175_Ala182delinsCysThrSerGlnGluArgThrArgArg;Lys184_Arg185delinsAlaGly;Gln188_Thr202delinsArgGlnCysCysMetGlnCysTrpThrThrAlaGluAlaPro;Ala204Leu]
CA31667973
ENST00000526189.3:c.524del