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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526313.1:p.[Leu663_Leu667delinsValHisCysPro;Ile669_Phe674delinsHisArgAlaProArg;Cys676Pro;Gly678_Phe680delinsProGlyGly;Leu682_Arg687delinsProSerMetGluGlu;Lys689_Asn692delinsAlaAla]
CA2695228324
XM_011528011.1:c.1987_1988del