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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Lys107_Glu113delinsArgArgAlaProArgThrSer;Arg115_Asp118delinsAlaAlaThrMet;Lys120_Asp136delinsSerAlaSerLeuGlySerSerSerValThrGlnThrGlyThrAlaTrpThr]
CA2580096409
ENST00000558518.6:c.320del