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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000497255.1:p.[Val86_Gly94del;Ile96His;Lys98_Pro102delinsAlaSerSerTrpLeu;Asp104_Phe108delinsHisArgSer;Pro110_Val113delinsLeuGlnAla;Lys115_Thr116insProSer]
CA2695215749
ENST00000648374.1:c.250_256dup