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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.[Gln533_Arg535delinsSerGln;Ala537_Thr543delinsArgLeuArgLeu;Glu545_Val549delinsTrpProProArg;Leu551_Val553delinsHisProPro;Ser555_His562delinsGly]
CA2582475428
ENST00000545707.5:c.1597del