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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000392041.3:p.[Thr288_Gln290delinsAspHis;Thr292_Ile293delinsGlyTyr;Val295del;Ala297_Gly302delinsCys;Glu304_Asp306delinsCys;Gln308_Thr313del;Arg315_Ile317del]
CA2580083654
ENST00000442944.7:c.861dup