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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Pro197_Cys202delinsLeuThrAsnSer;Asp204_Gly210delinsAlaLeuMetGluThrAla;Arg212_Glu226delinsMetAlaAlaGlySerValThrGlyAsnMetThrAlaArgThr]
CA2497030130
ENST00000535915.5:c.590del