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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Tyr576_Ile585delinsThrGlyLeuThrProAsnPheThrPro;Ser587_Gly592delinsGlnAlaSerMetSerThr;Asn594_Glu602delinsAlaThrGlyArgProSerTrpArgMet;Leu605delinsGlyTrp]
CA2497030087
NM_000527.5:c.1726del