Allele Registry

Canonical Allele Identifier: PA2827167943

Gene: HPS1 HGNC NCBI

ClinVar RCV:

RCV001994585

RCV003475214

ClinVar Variation:

1452567

HGVS (amino-acid)	Matching Registered Transcripts
NP_001309420.1:p.Leu239Pro	CA341638 NM_001322491.2:c.716T>C