Canonical Allele Identifier: PA645510800
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440587
ClinVar RCV Id: RCV000508878 RCV001214985
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg215Cys
CA044186
NM_000527.5:c.643C>T