Canonical Allele Identifier: PA645378152
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251697
ClinVar RCV Id: RCV000237662 RCV001067561
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys392Arg
CA10585335
NM_000527.5:c.1174T>C