Canonical Allele Identifier: PA2826213178
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251783
ClinVar RCV Id: RCV000237607 RCV000775063 RCV002379061 RCV003401205
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ile400Thr
CA10585400
NM_001195799.2:c.1199T>C