Canonical Allele Identifier: PA645378258
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251740
ClinVar RCV Id: RCV000237375 RCV001235902 RCV002365246 RCV003114410
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu408Val
CA10585364
NM_000527.5:c.1223A>T