Canonical Allele Identifier: PA645376496
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251309

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys197Phe
CA044039
NM_000527.5:c.590G>T