Canonical Allele Identifier: PA645379451
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252015
ClinVar RCV Id: RCV000238337 RCV001293734
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser584Pro
CA10585598
NM_000527.5:c.1750T>C