Canonical Allele Identifier: PA2826214453
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1763717
ClinVar RCV Id: RCV002414422

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys116Tyr
CA404080656
NM_001195800.2:c.347G>A