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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Leu634_Gly636del;Asp638Gln;Asn640_Asn645delinsProMetSerThrCysTrp;Leu647_Leu654delinsLysThrTyrCysProGlnArgIleTrp;His656_Leu658delinsSerSerThr;Gln660Ser;Arg662_Gly663delinsSerGlnGluGlu]
CA2695238660
ENST00000557933.5:c.1900del