Canonical Allele Identifier: PA100211
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251163
ClinVar RCV Id: RCV000237774 RCV001804973
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys116Arg
CA10584862
NM_000527.5:c.346T>C