Canonical Allele Identifier: PA099867
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226343
ClinVar RCV Id: RCV000211597 RCV001183695 RCV002399776 RCV002259322
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg350Pro
CA10576296
NM_000527.5:c.1049G>C