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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.[Thr694_Arg697delinsSerArgLysAsp;Gln699Ala;Thr701_Arg704delinsAsnHis;Val706_Thr709delinsThrCys;Arg711_Leu712insHis;Gly714Ala;Thr716delinsTrpGlyHis;Gly718_Ile724delinsTrpAlaHisHisGlyGlyAsp]
CA10585806
ENST00000560467.2:c.2081_2082del