Allele Registry

Canonical Allele Identifier: PA916026654

Gene: HPS1 HGNC NCBI

ClinVar RCV:

RCV001994585

RCV003475214

ClinVar Variation:

1452567

HGVS (amino-acid)	Matching Registered Transcripts
NP_001309421.1:p.Ser200Pro	CA341638 NM_001322492.2:c.598T>C