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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.[Glu294_Cys308delinsAlaValMetValAlaProThrAlaArgThrAsnLeuThrArg;Asp310_Cys317delinsThrAlaLeuTrpProProVal;Val319_Ala320delinsLeu;Cys322_Ser330delinsAsnSerSerAlaLeu]
CA10585020
ENST00000252444.10:c.881_902del