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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Leu466_Gly468del;Asp470Gln;Asn472_Asn477delinsProMetSerThrCysTrp;Leu479_Leu486delinsLysThrTyrCysProGlnArgIleTrp;His488_Leu490delinsSerSerThr;Gln492Ser;Arg494_Gly495delinsSerGlnGluGlu]
CA2695238660
ENST00000455727.6:c.1396del