Canonical Allele Identifier: PA2826216821
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251874
ClinVar RCV Id: RCV000238372 RCV000519148 RCV000770762 RCV002392745
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ala374Val
CA034573
NM_001195803.2:c.1121C>T