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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Val332_Arg345delinsCysGlyTyrGlnGlyArgGluGluGluAsnValIleGlnGly;Asn347_Gly361delinsArgLeuGlnAlaLysGlyHisArgGlyGlySerCysSerTrpLeu]
CA10585482
NM_001195800.2:c.994_995del