Canonical Allele Identifier: PA645379888
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226380
ClinVar RCV Id: RCV000211621 RCV001090454 RCV001188072 RCV002408919 RCV004017507
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg633His
CA037362
NM_000527.5:c.1898G>A