Canonical Allele Identifier: PA2825180325
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1038354
ClinVar RCV Id: RCV001341649

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly593Cys
CA036635
NM_000527.5:c.1777G>T