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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.[Asp524_Leu527delinsGluArgIleTrp;His529_Leu531delinsSerSerThr;Gln533Ser;Arg535_Ala537delinsSerGln;Ala539_Val553delinsArgLeuArgLeuGlnTrpProProArgArgHisProProSerGly]
CA10585692
ENST00000545707.5:c.1567_1571dup