Allele Registry

Canonical Allele Identifier: PA2827165983

Gene: HPS1 HGNC NCBI

ClinVar RCV:

RCV001829290

ClinVar Variation:

1341376

HGVS (amino-acid)	Matching Registered Transcripts
NP_001309412.1:p.Glu543Lys	CA5638803 NM_001322483.2:c.1627G>A