Canonical Allele Identifier: PA2826212689
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251489
ClinVar RCV Id: RCV000238295 RCV001043441
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gly246Cys
CA10585162
NM_001195799.2:c.736G>T