Canonical Allele Identifier: PA2826213193
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1120246

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser403Phe
CA404085252
NM_001195799.2:c.1208C>T