Canonical Allele Identifier: PA645379943
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252118
ClinVar RCV Id: RCV000238167 RCV002223828
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu646Ile
CA037469
NM_000527.5:c.1936C>A