Canonical Allele Identifier: PA915999899
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251760
ClinVar RCV Id: RCV000238040 RCV001384956 RCV002446477
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ile423Thr
CA10585381
NM_001195798.2:c.1268T>C