Allele Registry

Canonical Allele Identifier: PA106338

Gene: HPS5 HGNC NCBI

ClinVar RCV:

RCV000021032

RCV000150824

RCV001520026

ClinVar Variation:

21821

HGVS (amino-acid)	Matching Registered Transcripts
NP_852608.1:p.Thr1098Ile	CA176328 NM_181507.2:c.3293C>T