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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Leu759_Phe761delinsPro;Cys763_Leu764delinsProGly;Val766_Phe767del;Leu769_Arg774delinsProSerMetGluGlu;Lys776_Lys790delinsAlaAla]
CA645509299
ENST00000560467.2:c.2274_2281del