Canonical Allele Identifier: PA645377911
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251603
ClinVar RCV Id: RCV000238495 RCV000454858 RCV001191369
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp342Tyr
CA10585255
NM_000527.5:c.1024G>T