Canonical Allele Identifier: PA2826943122
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_001298274.1:p.Gly319Glu
CA5638838
NM_001311345.2:c.956G>A