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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Ser584_Ile585delinsPro;Ser587_Gly592delinsGlnAlaSerMetSerThr;Asn594_Glu602delinsAlaThrGlyArgProSerTrpArgMet;Leu605_Phe609delinsGlyTrpProThrPro;Leu611_Val613delinsProTrpProSer]
CA2497030088
NM_001195798.2:c.1750del