Canonical Allele Identifier: PA645375968
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251193
ClinVar RCV Id: RCV000238535
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys128Arg
CA10584891
NM_000527.5:c.382T>C