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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000498786.1:p.[Gln328_Asn333delinsValGlyCysProGlu;Ile336_Asn340delinsHisGlnProGlyGln;Leu342_Leu357delinsValAlaGluGlnArgSerGlnLysHisProGlyCysCysThrAlaAla]
CA2499220803
ENST00000652429.1:c.982_983del