Canonical Allele Identifier: PA2826213940
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252246

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Thr683Ile
CA10585797
NM_001195799.2:c.2048C>T