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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Thr147_Glu150delinsArg;Pro152_His158delinsThrGlnGlnValGlnVal;Gly160_Trp178delinsGlnArgArgMetHisHisProGlyGlnSerLeuGlnHisGly]
CA10585152
ENST00000545707.5:c.439_446del