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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000496970.1:p.[Thr271_Gln273delinsAspHis;Thr275_Ile276delinsGlyTyr;Val278del;Ala280_Gly285delinsCys;Glu287_Asp289delinsCys;Gln291_Thr296del;Arg298_Ile300del]
CA2580083654
ENST00000650101.1:c.810dup