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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000498044.1:p.[Ala181_Arg182delinsSerGln;Pro184_Trp185del;Trp187_Cys189delinsLeuGlyVal;Pro191Val;Thr193_Trp197delinsAlaLysAspGlnAsp;Trp199_Trp200delinsLeuAspLeu;Cys202_Ile205delinsGlyValLeuHisAsp;Arg207_Phe210delinsGluThrLeuLeu]
CA2695215819
ENST00000648026.1:c.540_541insA