Canonical Allele Identifier: PA915998451
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 526756
ClinVar RCV Id: RCV000985768 RCV002234402
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys167Ser
CA404076833
NM_001195798.2:c.499T>A
CA404076837
NM_001195798.2:c.500G>C