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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.[Phe461del;Ala463_Leu466delinsValPro;Gly468Ala;Asp470Gln;Asn472_Asn477delinsProMetSerThrCysTrp;Leu479_Leu486delinsLysThrTyrCysProGlnArgIleTrp;His488_Leu490delinsSerSerThrThrSer]
CA10585675
ENST00000455727.6:c.1382del