Canonical Allele Identifier: PA1139686136
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 920005
ClinVar RCV Id: RCV001178496

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ile764Arg
CA404095729
NM_001195798.2:c.2291T>G