Canonical Allele Identifier: PA645376499
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251308
ClinVar RCV Id: RCV000237260 RCV000490241 RCV000775044 RCV000825594 RCV002356329
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys197Gly
CA10584999
NM_000527.5:c.589T>G