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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.[Ile614_Leu616delinsMetSerSer;Ile618_Leu626delinsSerCysSerSerSerSerPheAlaTrp;Val628_Arg636delinsSerSerPheTyrGlyArgThrGlyGly;Lys638_Asn644delinsArgThrSerThrAlaSer]
CA645372643
NM_001195803.2:c.1842del