Canonical Allele Identifier: PA2826215651
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1497238
ClinVar RCV Id: RCV002019776

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys528Phe
CA404093868
NM_001195800.2:c.1583G>T