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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.[Lys193_Glu199delinsArgArgAlaProArgThrSer;Arg201_Asp204delinsAlaAlaThrMet;Lys206_Asp222delinsSerAlaSerLeuGlySerSerSerValThrGlnThrGlyThrAlaTrpThr]
CA2580096409
ENST00000252444.10:c.578del