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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Cys128_Asp131delinsLeu;Asp133_Cys134delinsProGly;Asp136Leu;Ser138_Ala151delinsArgLeuArgArgGlyLeuLeuProGlyAlaHisLeuTrp;Phe153Arg;Cys155_Ser158delinsLeuProValGlnGlnLeu]
CA2830763868
NM_000527.5:c.381_385del