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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Thr469_Asn474delinsAsnValIleGln;Ser476_Arg479delinsGluArgLeuGln;Ile481_His487delinsLysGlyHisArgGly;Phe489_Tyr491delinsSerCysSer;Thr493_Pro498delinsLeuHisValLeuAsp]
CA2695228117
NM_001195799.2:c.1405dup