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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Tyr408_Ile417delinsThrGlyLeuThrProAsnPheThrPro;Ser419_Gly424delinsGlnAlaSerMetSerThr;Asn426_Glu434delinsAlaThrGlyArgProSerTrpArgMet;Leu437delinsGlyTrp]
CA2497030087
NM_001195800.2:c.1222del