Canonical Allele Identifier: PA2826215510
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252114
ClinVar RCV Id: RCV000237656

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ala475Pro
CA10585682
NM_001195800.2:c.1423G>C