Canonical Allele Identifier: PA915998952
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251435
ClinVar RCV Id: RCV000238279

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg253Pro
CA10585115
NM_001195798.2:c.758G>C