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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Tyr449_Ile458delinsThrGlyLeuThrProAsnPheThrPro;Ser460_Gly465delinsGlnAlaSerMetSerThr;Asn467_Glu475delinsAlaThrGlyArgProSerTrpArgMet;Leu478delinsGlyTrp]
CA2497030087
NM_001195803.2:c.1345del