Canonical Allele Identifier: PA645376194
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251246
ClinVar RCV Id: RCV000238502

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr159Ile
CA10584938
NM_000527.5:c.476C>T