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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000278715.3:p.[Tyr213delinsLeuTrp;Val215Arg;Gln217_Gly218delinsProTrp;Leu220_Val222delinsTrpLysCys;Val224Pro;Ala226_Asp230delinsThrArgThrSerTrp;Leu232_Leu234delinsTrpTrp;Gly236_Asp240delinsCysCysThrIle;Glu242del]
CA2695215814
ENST00000278715.7:c.633_636del