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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526313.1:p.[Phe680_Trp686delinsTyrGlyArgThrGlyGlyLeu;Leu688_Asn692delinsThrSerThrAla;Ile694_Asn698delinsThrLeuThrThr;Val700_Ile711delinsSerIleArgArgProGlnArgMetArgSerThrPhe]
CA10585863
XM_011528011.1:c.2039_2045del