Canonical Allele Identifier: PA2825181093
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2048978
ClinVar RCV Id: RCV002932158

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly758Val
CA039316
NM_000527.5:c.2273G>T