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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.[Leu594_Gly596del;Asp598Gln;Asn600_Asn605delinsProMetSerThrCysTrp;Leu607_Leu614delinsLysThrTyrCysProGlnArgIleTrp;His616_Leu618delinsSerSerThr;Gln620Ser;Arg622_Gly623delinsSerGlnGluGlu]
CA2695238660
ENST00000560467.2:c.1780del