Canonical Allele Identifier: PA645379228
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 237867
ClinVar RCV Id: RCV000228158 RCV001339707
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg574Leu
CA036228
NM_000527.5:c.1721G>T