Canonical Allele Identifier: PA2826213080
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251740
ClinVar RCV Id: RCV000237375 RCV001235902 RCV002365246 RCV003114410
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Glu367Val
CA10585364
NM_001195799.2:c.1100A>T