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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.[Thr470_Asn475delinsAsnValIleGln;Ser477_Arg480delinsGluArgLeuGln;Ile482_His488delinsLysGlyHisArgGly;Phe490_Tyr492delinsSerCysSer;Thr494_Pro499delinsLeuHisValLeuAsp]
CA2695228117
ENST00000560467.2:c.1408dup