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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Gly582_Arg599delinsHisCysLeuCysCysGlyTyrGlnGlyArgGluGluGluAsnValIleGlnGly;Asn601_Asp611delinsArgLeuGlnAlaLysGlyHisArgGlyGlySer]
CA351943
ENST00000252444.10:c.1744_1745del