Canonical Allele Identifier: PA2826214204
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1684852
ClinVar RCV Id: RCV002247944

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ala18Pro
CA404071765
NM_001195800.2:c.52G>C