Canonical Allele Identifier: PA645378386
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251768
ClinVar RCV Id: RCV000237213
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val430Leu
CA10585387
NM_000527.5:c.1288G>C