Canonical Allele Identifier: PA645377859
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251588
ClinVar RCV Id: RCV000237664 RCV001804975
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Tyr336Cys
CA10585241
NM_000527.5:c.1007A>G