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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Phe589_Asn600delinsTyrGlnCysGlnProProHisArgPheArgCysGln;Leu602_Met612del;Leu614_Leu618delinsGly]
CA645373238
ENST00000560467.2:c.1765_1766insA