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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000491061.1:p.[Thr176_Ile177delinsHisAsp;Arg179delinsGluThr;Leu180_Cys181insLeuArg;Phe182Ile;Ala183_Ala184insGluArg;Ser185Phe;Lys187delinsArgHisLeuGlu;Pro189delinsGlyCys;Ser190_Ter191insValProValAlaValHis]
CA2695215834
ENST00000640813.1:c.525dup