Canonical Allele Identifier: PA2826213145
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183111
ClinVar RCV Id: RCV000161983 RCV000237224 RCV001182459 RCV002381529 RCV003895079
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Leu391Val
CA023448
NM_001195799.2:c.1171C>G