Canonical Allele Identifier: PA645379940
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252115
ClinVar RCV Id: RCV000238205 RCV000775081
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala643Val
CA10585683
NM_000527.5:c.1928C>T