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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Cys635_Leu636delinsSerTrp;Val638_Arg646delinsSerSerPheTyrGlyArgThrGlyGly;Lys648_Asn657delinsArgThrSerThrAlaSerThrLeuThrThr;Val659_Thr664delinsSerIleArgArgProGln]
CA2695228330
ENST00000455727.6:c.1904del