Canonical Allele Identifier: PA2825181106
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 920005
ClinVar RCV Id: RCV001178496
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ile764Arg
CA404095729
NM_000527.5:c.2291T>G