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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Gly456_Arg473delinsHisCysLeuCysCysGlyTyrGlnGlyArgGluGluGluAsnValIleGlnGly;Asn475_Asp485delinsArgLeuGlnAlaLysGlyHisArgGlyGlySer]
CA351943
ENST00000560467.2:c.1366_1367del