Canonical Allele Identifier: PA2826216340
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251599
ClinVar RCV Id: RCV000237320 RCV001203165 RCV004017547
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys213Leu
CA10585253
NM_001195803.2:c.638_639delinsTG