Canonical Allele Identifier: PA915999121
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251488
ClinVar RCV Id: RCV000237148 RCV000590088 RCV000985771 RCV002446473
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser286Arg
CA029904
NM_001195798.2:c.858C>A
CA404080682
NM_001195798.2:c.856A>C
CA404080699
NM_001195798.2:c.858C>G