Allele Registry

Canonical Allele Identifier: PA094427

Gene: HPS3 HGNC NCBI

ClinVar RCV:

RCV000004876

RCV001070228

RCV001272473

ClinVar Variation:

4613

HGVS (amino-acid)	Matching Registered Transcripts
NP_115759.2:p.Arg397Trp	CA340273 NM_032383.5:c.1189C>T