Canonical Allele Identifier: PA2826212208
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_001182728.1:p.[Ser82_Arg83insAlaThrMetGlySerAlaSerLeuPro;Arg83_Gln84insTrpGluVal]
CA1139666290
NM_001195799.2:c.247_248delinsGCCACGATGGGAAGTGCATCGCTGCCACGAT...