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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Val354del;Ser356_Tyr359delinsLeuHisArg;Phe361_Val368delinsProLeuLeuHisGlnProAla;Lys370_Leu373delinsGlyGlnGluAsp;Arg375_Ser376delinsAlaGlyPro;Tyr378_Ile382delinsArgValHisGlnProHis;Asn384Gln]
CA16609812
ENST00000535915.5:c.1061_1062del