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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.[Phe528_Leu531delinsSerThr;Gln533Ser;Arg535_Ala537delinsSerGln;Ala539_Thr543delinsArgLeuArgLeu;Glu545_Val549delinsTrpProProArg;Leu551_Val553delinsHisProPro;Ser555_Ala557delinsGly]
CA10585699
ENST00000545707.5:c.1583del