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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.[Val165_Cys190delinsSerThrAlaAlaPheLeuSerSerGlyGlyAlaMetAlaLysTrpThrAlaThrThrAlaGlnThrSerLysAlaVal;Lys193_Thr194delinsArgArg]
CA2573050565
ENST00000252444.10:c.493del