Canonical Allele Identifier: PA2826212459
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251353
ClinVar RCV Id: RCV000237984
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gly178_Pro179del
CA10585043
NM_001195799.2:c.533_538del