Allele Registry

Canonical Allele Identifier: PA2827166884

Gene: HPS1 HGNC NCBI

ClinVar RCV:

RCV001829290

ClinVar Variation:

1341376

HGVS (amino-acid)	Matching Registered Transcripts
NP_001309414.1:p.Glu510Lys	CA5638803 NM_001322485.2:c.1528G>A