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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.[Asp524_Asn530delinsGluTyrGlySer;Thr532Pro;Arg535_Cys540delinsHisProAlaLysArgSer;Arg542_Thr544del;Ser546_Leu553delinsVal]
CA2695228166
XM_011528011.1:c.1571_1572insG