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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.[Glu117_Asp122delinsSerSerSerAlaLysThr;Lys124_Ile126delinsAsnAlaSerProThr;Tyr128_Gly134delinsGlySerAlaMetAlaAlaLeu;Glu137_Gly141delinsArgMetAlaLeuMet;Asp143_Gln146delinsProArg]
CA2695223173
ENST00000252444.10:c.349del