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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Asn520Thr;His522_Ser523delinsThrArg;Lys525_Cys528delinsSerLeuPro;Cys530del;Asp532_Leu536del;Asp539_Ser542delinsThrAlaCys;Leu544_Ala549delinsTrpProGlyThr]
CA10585756
ENST00000455727.6:c.1559del
CA645373258
ENST00000455727.6:c.1557del