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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000496970.1:p.[Tyr190delinsLeuTrp;Val192Arg;Gln194_Gly195delinsProTrp;Leu197_Val199delinsTrpLysCys;Val201Pro;Ala203_Asp207delinsThrArgThrSerTrp;Leu209_Leu211delinsTrpTrp;Gly213_Asp217delinsCysCysThrIle;Glu219del]
CA2695215814
ENST00000650101.1:c.564_567del