Allele Registry

Canonical Allele Identifier: PA2827165498

Gene: HPS1 HGNC NCBI

ClinVar RCV:

RCV001829290

ClinVar Variation:

1341376

HGVS (amino-acid)	Matching Registered Transcripts
NP_001309411.1:p.Glu546Lys	CA5638803 NM_001322482.2:c.1636G>A