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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.[Thr820_Arg823delinsSerArgLysAsp;Gln825Ala;Thr827_Arg830delinsAsnHis;Val832_Thr835delinsThrCys;Arg837_Leu838insHis;Gly840Ala;Thr842delinsTrpGlyHis;Gly844_Ile850delinsTrpAlaHisHisGlyGlyAsp]
CA10585806
ENST00000252444.10:c.2459_2460del