Canonical Allele Identifier: PA2826212457
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226329
ClinVar RCV Id: RCV000211647 RCV000489033 RCV000589051 RCV002363056 RCV004017502
ClinVar Variation Id: 251352
ClinVar RCV Id: RCV000237428
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gly178del
CA023734
NM_001195799.2:c.531_533del
CA10585042
NM_001195799.2:c.532_534del