Canonical Allele Identifier: PA645379237
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251999
ClinVar RCV Id: RCV000237843 RCV001223410 RCV001800609
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Tyr576Cys
CA10585583
NM_000527.5:c.1727A>G