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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005271589.1:p.[Tyr196delinsLeuTrp;Val198Arg;Gln200_Gly201delinsProTrp;Leu203_Val205delinsTrpLysCys;Val207Pro;Ala209_Asp213delinsThrArgThrSerTrp;Leu215_Leu217delinsTrpTrp;Gly219_Asp223delinsCysCysThrIle;Glu225del]
CA2695215814
XM_005271532.1:c.582_585del