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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.[Phe241_Cys243delinsSer;Asp245_Gly251delinsAlaLeuMetGluThrAla;Arg253_Asp263delinsMetAlaAlaGlySerValThrGlyAsn;Ser265_Cys270delinsThrAlaArgThr]
CA2695228113
ENST00000560467.2:c.722del