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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Cys641_Leu642insSer;Ala644_Asn648delinsArgArgSerThr;His650_Ser651delinsThrArg;Lys653_Cys656delinsSerLeuPro;Cys658del;Asp660_Leu664delinsAlaArgThr;Arg666_Cys671delinsCysCysTrpProGlyThr]
CA2830773956
ENST00000560467.2:c.1924del