Canonical Allele Identifier: PA645376118
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251222
ClinVar RCV Id: RCV000238382 RCV001526129
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val145Ala
CA043591
NM_000527.5:c.434T>C