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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.[Ala304delinsTrpSer;Asp306Trp;Glu308_Asn312delinsArg;Ile314_Tyr315del;Ser317_Met323delinsProAla;Cys325Glu;Gln328Gly;Asp330delinsThrCysPro;Ala332Glu]
CA2573131732
XM_011528011.1:c.904_908dup