Canonical Allele Identifier: PA2826212587
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251439
ClinVar RCV Id: RCV000237305

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gln213His
CA10585118
NM_001195799.2:c.639G>T
CA404079854
NM_001195799.2:c.639G>C