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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453696.2:p.[Gly496_Arg513delinsHisCysLeuCysCysGlyTyrGlnGlyArgGluGluGluAsnValIleGlnGly;Asn515_Asp525delinsArgLeuGlnAlaLysGlyHisArgGlyGlySer]
CA351943
ENST00000559340.2:c.1486_1487del