Canonical Allele Identifier: PA2573186299
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1497238
ClinVar RCV Id: RCV002019776

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys696Phe
CA404093868
NM_001195798.2:c.2087G>T