Canonical Allele Identifier: PA645510821
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440618
ClinVar RCV Id: RCV000508849

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly343Val
CA404082758
NM_000527.5:c.1028G>T