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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.[Cys168_Cys190delinsAlaPheLeuSerSerGlyGlyAlaMetAlaLysTrpThrAlaThrThrAlaGlnThrSerLysAlaVal;Lys193_Gln197delinsArgArgAlaProArg]
CA10584806
ENST00000252444.10:c.502del