Canonical Allele Identifier: PA2825208665
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1755040
ClinVar RCV Id: RCV002367202

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp224His
CA404078381
NM_000527.5:c.670G>C