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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000392041.3:p.[Tyr207delinsLeuTrp;Val209Arg;Gln211_Gly212delinsProTrp;Leu214_Val216delinsTrpLysCys;Val218Pro;Ala220_Asp224delinsThrArgThrSerTrp;Leu226_Leu228delinsTrpTrp;Gly230_Asp234delinsCysCysThrIle;Glu236del]
CA2695215814
ENST00000442944.7:c.615_618del