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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Ile792_Leu794delinsLeuSerSer;Ile796_Leu804delinsSerCysSerSerSerSerPheAlaTrp;Val806_Arg814delinsSerSerPheTyrGlyArgThrGlyGly;Lys816_Ile821delinsArgThrSerThrAlaSer]
CA2582476259
ENST00000558013.5:c.2374del