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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.[Thr586_Thr594delinsLysArgLeuArgLeu;Glu596_Val600delinsTrpProProArg;Leu602_Val604delinsHisProPro;Ser606_Thr615delinsGly]
CA783248549
XM_011528011.1:c.1757del