Canonical Allele Identifier: PA916001124
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226387
ClinVar RCV Id: RCV000211602

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala717Thr
CA10576330
NM_001195798.2:c.2149G>A