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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.[Val104_Ile120delinsGlyAlaHisLeuTrpSerArgGlnLeuProValGlnGlnLeuHisLeuHis;Gln122_Asp129delinsProAlaValGlyLeuArgGlnArg;Asp131_Cys132delinsArgLeuArg]
CA2582473460
ENST00000535915.5:c.308dup