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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Asp638_Ser648delinsMetSerThrCysTrpLeuLysThrTyrCys;Glu650_Leu654delinsGlnArgIleTrp;His656_Leu658delinsSerSerThr;Gln660Ser;Arg662_Cys667delinsSerGlnGluGlu]
CA10654854
NM_000527.5:c.1911del