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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526313.1:p.[Cys265_Lys266del;Val268_Ile271delinsArgLeuTrp;Tyr273_Phe276delinsProSerPro;Asn278_Met285delinsSerSerSerProThrGly;Leu287_Asp288del;Glu291_Ser294delinsGlyArg]
CA10585334
XM_011528011.1:c.792del