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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.[Val97_Gly105del;Ile107His;Lys109_Pro113delinsAlaSerSerTrpLeu;Asp115_Phe119delinsHisArgSer;Pro121_Val124delinsLeuGlnAla;Lys126_Thr127insProSer]
CA2695215749
ENST00000442944.7:c.283_289dup