Canonical Allele Identifier: PA916000281
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_001182727.1:p.Gly516Ser
CA034716
NM_001195798.2:c.1546G>A