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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526312.1:p.[Lys120_Phe126delinsSerAlaSerLeuGlySerSerSer;Cys128_Glu140delinsThrGlnThrGlyThrAlaTrpThrAlaGlnThrArgProPro;Ser142Arg;Cys143_Pro144insSer;Leu146_Gly149del]
CA10584871
XM_011528010.2:c.357del