Canonical Allele Identifier: PA645379818
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 369855
ClinVar RCV Id: RCV000408811 RCV000816915 RCV001770290 RCV002411268
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ile623Thr
CA037264
NM_000527.5:c.1868T>C