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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.[Glu610_Val613delinsTyrGlySer;Phe615_Thr619delinsPro;Arg622_Cys627delinsHisProAlaLysArgSer;Arg629_Thr631del;Ser633_Leu640delinsVal]
CA2830773965
ENST00000560467.2:c.1828_1832del