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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.[Phe781_Trp787delinsTyrGlyArgThrGlyGlyLeu;Leu789_Asn793delinsThrSerThrAla;Ile795_Asn799delinsThrLeuThrThr;Val801_Ile812delinsSerIleArgArgProGlnArgMetArgSerThrPhe]
CA10585863
XM_011528010.2:c.2342_2348del