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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.[Ile752_Leu754delinsMetSerSer;Ile756_Leu764delinsSerCysSerSerSerSerPheAlaTrp;Val766_Arg774delinsSerSerPheTyrGlyArgThrGlyGly;Lys776_Asn782delinsArgThrSerThrAlaSer]
CA645372643
ENST00000560467.2:c.2256del