Allele Registry

Canonical Allele Identifier: PA2827166578

Gene: HPS1 HGNC NCBI

ClinVar RCV:

RCV001994585

RCV003475214

ClinVar Variation:

1452567

HGVS (amino-acid)	Matching Registered Transcripts
NP_001309414.1:p.Leu116Pro	CA341638 NM_001322485.2:c.347T>C