Allele Registry

Canonical Allele Identifier: PA2825079506

Gene: HPS1 HGNC NCBI

ClinVar RCV:

RCV001829290

ClinVar Variation:

1341376

HGVS (amino-acid)	Matching Registered Transcripts
NP_000186.2:p.Glu666Lys	CA5638803 NM_000195.5:c.1996G>A