Canonical Allele Identifier: PA2826215563
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 406167
ClinVar RCV Id: RCV002230768

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Gly495Arg
CA16615990
NM_001195800.2:c.1483G>A
CA404093348
NM_001195800.2:c.1483G>C