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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000509288.1:p.[Tyr158delinsLeuTrp;Val160Arg;Gln162_Gly163delinsProTrp;Leu165_Val167delinsTrpLysCys;Val169Pro;Ala171_Asp175delinsThrArgThrSerTrp;Leu177_Leu179delinsTrpTrp;Gly181_Asp185delinsCysCysThrIle;Glu187del]
CA2695215814
ENST00000686218.1:c.468_471del