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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Glu208_Cys222delinsAlaValMetValAlaProThrAlaArgThrAsnLeuThrArg;Asp224_Cys231delinsThrAlaLeuTrpProProVal;Val233_Ala234delinsLeu;Cys236_Ser244delinsAsnSerSerAlaLeu]
CA10585020
ENST00000557933.5:c.623_644del