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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000509288.1:p.[Thr239_Gln241delinsAspHis;Thr243_Ile244delinsGlyTyr;Val246del;Ala248_Gly253delinsCys;Glu255_Asp257delinsCys;Gln259_Thr264del;Arg266_Ile268del]
CA2580083654
ENST00000686218.1:c.714dup