Canonical Allele Identifier: PA916001247
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252293
ClinVar RCV Id: RCV000237632
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg788Ser
CA10585832
NM_001195798.2:c.2364G>T
CA404096840
NM_001195798.2:c.2364G>C