Canonical Allele Identifier: PA916001110
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226386
ClinVar RCV Id: RCV000211696

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu714Gln
CA10576329
NM_001195798.2:c.2140G>C