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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005271588.1:p.[Thr277_Gln279delinsAspHis;Thr281_Ile282delinsGlyTyr;Val284del;Ala286_Gly291delinsCys;Glu293_Asp295delinsCys;Gln297_Thr302del;Arg304_Ile306del]
CA2580083654
XM_005271531.1:c.828dup