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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005271590.1:p.[Val85_Gly93del;Ile95His;Lys97_Pro101delinsAlaSerSerTrpLeu;Asp103_Phe107delinsHisArgSer;Pro109_Val112delinsLeuGlnAla;Lys114_Thr115insProSer]
CA2695215749
XM_005271533.3:c.247_253dup