Canonical Allele Identifier: PA2826212319
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2577317
ClinVar RCV Id: RCV003324394
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp131Val
CA404076942
NM_001195799.2:c.392A>T
CA2580612602
NM_001195799.2:c.392_393delinsTT