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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000392041.2:p.[Leu203_Val205delinsTrpLysCys;Val207Pro;Ala209_Asp213delinsThrArgThrSerTrp;Leu215_Leu217delinsTrpTrp;Gly219_Asp223delinsCysCysThrIle;Glu225_Thr226delinsArg;Leu228_Arg234delinsCysPheAlaAlaSerLeuLys]
CA2695215825
ENST00000442944.6:c.606_612del