Canonical Allele Identifier: PA2826213352
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251881
ClinVar RCV Id: RCV000237901 RCV000775071 RCV001812661 RCV002392746
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val465Met
CA034649
NM_001195799.2:c.1393G>A