Canonical Allele Identifier: PA2825179158
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1740990
ClinVar RCV Id: RCV002328641 RCV003741305
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Lys393Glu
CA404083956
NM_000527.5:c.1177A>G