Allele Registry

SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.

Canonical Allele Identifier: PA1139750565

Gene: HPS4 HGNC NCBI

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_071364.4:p.Gly198Glu	CA10163641 NM_022081.5:c.593G>A