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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.[Met525_Val526delinsGlySer;Phe528_Thr532delinsPro;Arg535_Glu541delinsHisProAlaLys;Thr543_Leu545del;Asn547_Tyr552delinsGlu;Cys554Val]
CA9204951
XM_011528011.1:c.1573_1574del