Canonical Allele Identifier: PA2826214458
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251484
ClinVar RCV Id: RCV000238133

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys116Arg
CA10585158
NM_001195800.2:c.346T>C