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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Glu167_Cys181delinsAlaValMetValAlaProThrAlaArgThrAsnLeuThrArg;Asp183_Cys190delinsThrAlaLeuTrpProProVal;Val192_Ala193delinsLeu;Cys195_Ser203delinsAsnSerSerAlaLeu]
CA10585020
NM_001195799.2:c.500_521del