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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.[Val696_Thr702delinsGlnLeuHisSerArgLysAsp;Arg704_Asp708delinsAlaHisAsnHisPro;Thr709_Ser710insCys;Arg711_Leu712insHis;Gly714Ala;Thr716delinsTrpGlyHis;Gly718_Ile724delinsTrpAlaHisHisGlyGlyAspSer]
CA2695228317
ENST00000560467.2:c.2072_2084dup