Allele Registry

Canonical Allele Identifier: PA916077879

Gene: HPS5 HGNC NCBI

ClinVar RCV:

RCV000021032

RCV000150824

RCV001520026

ClinVar Variation:

21821

HGVS (amino-acid)	Matching Registered Transcripts
NP_852609.1:p.Thr984Ile	CA176328 NM_181508.1:c.2951C>T