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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.[Glu199_Asp204delinsValGlySerAlaSerLeu;Lys206_Arg210delinsSerSerSerValThr;Phe212_Ala227delinsThrGlyThrAlaTrpThrAlaGlnThrArgProProAlaArgCys;Cys229del;Val231_Thr233del]
CA10584860
ENST00000252444.10:c.596_611del