Canonical Allele Identifier: PA2826213159
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1769474
ClinVar RCV Id: RCV002380912

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Glu394Val
CA404085069
NM_001195799.2:c.1181A>T