Canonical Allele Identifier: PA2826215615
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1785078
ClinVar RCV Id: RCV002421827 RCV004007394
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ala516Val
CA404093668
NM_001195800.2:c.1547C>T