Canonical Allele Identifier: PA2826212594
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1321227
ClinVar RCV Id: RCV002227554

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys214Phe
CA404079874
NM_001195799.2:c.641G>T