Canonical Allele Identifier: PA2825180316
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1779868
ClinVar RCV Id: RCV002401885

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly592Val
CA404089765
NM_000527.5:c.1775G>T