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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000443058.1:p.[Ala263_Arg268delinsLeuValThrPheHisGlu;Gln271_Ile279delinsSerTrpLeuProArgThrTrpAla;Leu281del;Asn283_Asn292delinsTrpProThrCysCys]
CA16043456
ENST00000542729.5:c.787del