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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.[Lys154_Asp166delinsSerSerSerValThrAlaAlaAsnAlaSerProTrpThr;Val168_Glu181delinsSerAlaThrTrpLeuGluThrAlaGlyThrGlyGlnMetAsn;Ile183Ser]
CA2695238669
ENST00000545707.5:c.461del