Canonical Allele Identifier: PA2826213411
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2709807
ClinVar RCV Id: RCV003582416

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gly488Cys
CA404086624
NM_001195799.2:c.1462G>T