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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Ile161Gly;Gln163_Asp175delinsAlaThrThrThrProThrAlaLysMetAlaArgMetSer;Gly176_Ser177insArg;Asp178_Arg183delinsAlaValGlyValPheThr;Arg185_Gln191delinsSerLys;Asp193_Ser194delinsThr]
CA2697556252
ENST00000558518.6:c.480_492del