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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.[Val800_Leu804delinsSerSerPheAlaTrp;Val806_Arg814delinsSerSerPheTyrGlyArgThrGlyGly;Lys816_Asn825delinsArgThrSerThrAlaSerThrLeuThrThr;Val827_Gln829delinsSerIle]
CA2695228329
ENST00000558013.5:c.2397del