Canonical Allele Identifier: PA916000242
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 265903
ClinVar RCV Id: RCV000256293

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Val500Ala
CA10588896
NM_001195798.2:c.1499T>C