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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Gly76_Gly98delinsValSerThrAlaAlaPheLeuSerSerGlyGlyAlaMetAlaLysTrpThrAlaThrThrAlaGlnThr;Asp100_Cys104delinsLysAlaVal;Lys107Arg]
CA2499225307
ENST00000558013.5:c.227_233del