Canonical Allele Identifier: PA916001482
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441184
ClinVar RCV Id: RCV000509240

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys80_Gln84del
CA658653698
NM_001195799.2:c.239_253del