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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Arg706_Leu712del;Glu714_Ala715delinsGlyHis;Ala717_Gln722del;Thr724_Val727delinsLeuProHis;Leu729_Ala735delinsGly]
CA645509291
NM_001195798.2:c.2116_2117insC