Canonical Allele Identifier: PA2826215109
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2773517
ClinVar RCV Id: RCV003582116

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Val330Leu
CA404086398
NM_001195800.2:c.988G>C