Canonical Allele Identifier: PA658655273
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441192
ClinVar RCV Id: RCV000509412 RCV001857296
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys236Ser
CA404079433
NM_000527.5:c.706T>A
CA404079439
NM_000527.5:c.707G>C