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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.[Asp589del;Asn591_Gly592delinsSerThr;Asn594_Glu602delinsAlaThrGlyArgProSerTrpArgMet;Leu605_Phe609delinsGlyTrpProThrPro;Leu611_Asp616delinsProTrpProSerLeuArgThr;Val618Tyr]
CA10585605
ENST00000557933.5:c.1766del