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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000498786.1:p.[Leu220_Val222delinsTrpLysCys;Val224Pro;Ala226_Asp230delinsThrArgThrSerTrp;Leu232_Leu234delinsTrpTrp;Gly236_Asp240delinsCysCysThrIle;Glu242_Thr243delinsArg;Leu245_Arg251delinsCysPheAlaAlaSerLeuLys]
CA2695215825
ENST00000652429.1:c.657_663del