Canonical Allele Identifier: PA2826214030
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1789783
ClinVar RCV Id: RCV002448238

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gly738Ala
CA404096713
NM_001195799.2:c.2213G>C