Canonical Allele Identifier: PA2825208479
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 922997
ClinVar RCV Id: RCV001183380
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Ser123_Arg124insAlaThrMetGlySerAlaSerLeuPro;Arg124_Gln125insTrpGluVal]
CA1139666290
NM_000527.5:c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGG...