Canonical Allele Identifier: PA2826215052
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161277
ClinVar RCV Id: RCV000211688 RCV000826171 RCV000775069 RCV001256967 RCV002051670 RCV002390310
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Gly310Arg
CA023495
NM_001195800.2:c.928G>A
CA404085987
NM_001195800.2:c.928G>C