Canonical Allele Identifier: PA916000135
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251841
ClinVar RCV Id: RCV000237678

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala480Pro
CA10585451
NM_001195798.2:c.1438G>C