Allele Registry

Canonical Allele Identifier: PA2826931339

Gene: HPS3 HGNC NCBI

ClinVar RCV:

RCV000004876

RCV001070228

RCV001272473

ClinVar Variation:

4613

HGVS (amino-acid)	Matching Registered Transcripts
NP_001295187.1:p.Arg232Trp	CA340273 NM_001308258.2:c.694C>T