Canonical Allele Identifier: PA2826216396
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1783245
ClinVar RCV Id: RCV002421554
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Glu230Val
CA404083139
NM_001195803.2:c.689A>T