Canonical Allele Identifier: PA645376259
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251268

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp172Tyr
CA10584959
NM_000527.5:c.514G>T