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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Val628_Arg636delinsArgSerSerPheTyrGlyArgThrGlyGly;Lys638_Asn647delinsArgThrSerThrAlaSerThrLeuThrThr;Val649_Val658delinsSerIleArgArgProGlnArgMetArg]
CA2573050627
NM_001195803.2:c.1882_1884delinsAGAAG