Canonical Allele Identifier: PA2826214120
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252343
ClinVar RCV Id: RCV000238350 RCV001182071 RCV002446481 RCV003736672
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Pro785Thr
CA10585870
NM_001195799.2:c.2353C>A