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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005271588.1:p.[Ala303_Arg308delinsLeuValThrPheHisGlu;Gln311_Ile319delinsSerTrpLeuProArgThrTrpAla;Leu321del;Asn323_Asn332delinsTrpProThrCysCys]
CA16043456
XM_005271531.1:c.907del