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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.[Ile448_Leu455delinsHisLeuLeuAspArgLeuCysPro;Thr457_Lys464delinsHisCysLeuCysCysGlyTyrGln;Val466_Ser477delinsArgGluGluGluAsnValIleGlnGlyGluArgLeu]
CA658799138
ENST00000560467.2:c.1341dup