Canonical Allele Identifier: PA235430
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183107
ClinVar RCV Id: RCV000161979 RCV001179374 RCV002485006
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val369Met
CA023419
NM_000527.5:c.1105G>A