Canonical Allele Identifier: PA2827162432
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 298337
ClinVar RCV Id: RCV000360492 RCV000910981 RCV001275292 RCV001820863 RCV003957556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309405.1:p.Gly643Glu
CA5638838
NM_001322476.1:c.1928G>A