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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000438424.1:p.[Gly216_Gln217del;Gly219Pro;Cys221_Val225delinsArgArgLeuGlnCys;Val227_Thr229delinsSerSerArg;Met231_Leu238delinsTyrSerTyrGluGlyTrpAla;Gly240_Val242delinsValProAsp;Trp243_Ser244insArg;Leu245_Asp246insGluSer]
CA2695215819
ENST00000544387.5:c.646_647insA