Canonical Allele Identifier: PA2580170547
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1779868
ClinVar RCV Id: RCV002401885

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gly592Val
CA404089765
NM_001195798.2:c.1775G>T