Canonical Allele Identifier: PA2826215147
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226359
ClinVar RCV Id: RCV000211664 RCV001177035 RCV002399777 RCV003477712
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Gly348Ser
CA034716
NM_001195800.2:c.1042G>A