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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Cys625_Leu626delinsSerTrp;Val628_Arg636delinsSerSerPheTyrGlyArgThrGlyGly;Lys638_Asn647delinsArgThrSerThrAlaSerThrLeuThrThr;Val649_Thr654delinsSerIleArgArgProGln]
CA2695228330
ENST00000545707.5:c.1874del