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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.[Ser458_Lys463delinsCysCysGlyTyrGln;Val465_Lys466del;Lys468_Asn474delinsGluGluGluAsnValIleGln;Ser476_Arg479delinsGluArgLeuGln;Ile481_Gly488delinsLysGlyHisArgGlyGlySerCysSerTrp]
CA10585481
NM_001195799.2:c.1373_1374del