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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.[Leu750_Leu754delinsValHisCysPro;Ile756_Phe761delinsHisArgAlaProArg;Cys763Pro;Gly765_Phe767delinsProGlyGly;Leu769_Arg774delinsProSerMetGluGlu;Lys776_Asn779delinsAlaAla]
CA2695228324
ENST00000560467.2:c.2248_2249del