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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005271590.1:p.[Pro190_Glu192delinsLeuArgAsnAla;Tyr195delinsLeuTrp;Val197Arg;Gln199_Gly200delinsProTrp;Leu202_Val204delinsTrpLysCys;Val206Pro;Ala208_Asp212delinsThrArgThrSerTrp;Leu214_Leu216delinsTrpTrp;Gly218_Val219delinsCys]
CA2573146996
XM_005271533.3:c.569del