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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Asn731_Ser734delinsLysProThrVal;Glu736_Asn743delinsArgGlyTyrGlySer;Thr745Pro;Arg748_Cys753delinsHisProAlaLysArgSer;Arg755_Thr757del;Ser759_Asn760delinsVal]
CA10585684
ENST00000252444.10:c.2192dup