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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Cys87_Asp90delinsLeu;Asp92_Cys93delinsProGly;Asp95Leu;Ser97_Ala110delinsArgLeuArgArgGlyLeuLeuProGlyAlaHisLeuTrp;Phe112Arg;Cys114_Ser117delinsLeuProValGlnGlnLeu]
CA2830763868
NM_001195799.2:c.258_262del