Canonical Allele Identifier: PA2825181283
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2542522
ClinVar RCV Id: RCV004314244

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Pro795Arg
CA404096908
NM_000527.5:c.2384C>G