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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Asn605_Ser608delinsLysProThrVal;Glu610_Asn617delinsArgGlyTyrGlySer;Thr619Pro;Arg622_Cys627delinsHisProAlaLysArgSer;Arg629_Thr631del;Ser633_Asn634delinsVal]
CA10585684
ENST00000560467.2:c.1814dup