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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Ala125_Gly135delinsGluMetAlaArgMetSerGlyArg;Asp137_Arg142delinsAlaValGlyValPheThr;Arg144_Tyr147delinsSerLysGlyThr;Phe149_Ser153delinsAlaProAlaArgPro;Pro155_Cys156delinsSer;Ala158_His162delinsThr]
CA2695223203
NM_001195799.2:c.374_398del