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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Phe589Asp;Ala591_Leu594delinsValPro;Gly596Ala;Asp598Gln;Asn600_Asn605delinsProMetSerThrCysTrp;Leu607_Leu614delinsLysThrTyrCysProGlnArgIleTrp;His616_Leu618delinsSerSerThr;Thr619dup]
CA2695228157
ENST00000560467.2:c.1764_1765insGA