Canonical Allele Identifier: PA2826212161
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251037

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ala50Thr
CA041995
NM_001195799.2:c.148G>A