Canonical Allele Identifier: PA2826213206
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2180088
ClinVar RCV Id: RCV002599470

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg408Ile
CA404085336
NM_001195799.2:c.1223G>T