Canonical Allele Identifier: PA645380270
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252217
ClinVar RCV Id: RCV000238344 RCV002418070
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys698Trp
CA10585771
NM_000527.5:c.2094C>G