Canonical Allele Identifier: PA2827164516
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 298337
ClinVar RCV Id: RCV000360492 RCV000910981 RCV001275292 RCV001820863 RCV003957556
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309409.1:p.Gly556Glu
CA5638838
NM_001322480.2:c.1667G>A