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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.[Lys193Arg;Cys195del;Gln197_Ile208delinsPheAlaAlaThrMetGlySerAlaSerLeuGlySer;Arg210_Phe212delinsSer;Cys214_Glu226delinsThrGlnThrGlyThrAlaTrpThrAlaGlnThrArg]
CA10584852
ENST00000252444.10:c.578_590del