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Canonical Allele Identifier: Get Identifier
Gene: MPZ HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000431441.1:p.[Leu6_Ala13delinsCysThrSerGlnGluArgThrArgArg;Lys15_Arg16delinsAlaGly;Gln19_Thr33delinsArgGlnCysCysMetGlnCysTrpThrThrAlaGluAlaPro;Ala35Leu]
CA31667973
ENST00000491222.5:c.17del