Canonical Allele Identifier: PA2826217154
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1379706
ClinVar RCV Id: RCV001883908
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Thr494Ile
CA404092420
NM_001195803.2:c.1481C>T