Allele Registry

Canonical Allele Identifier: PA2830297112

Gene: HPS4 HGNC NCBI

ClinVar RCV:

RCV001960479

ClinVar Variation:

1443297

HGVS (amino-acid)	Matching Registered Transcripts
NP_690054.1:p.Glu217Lys	CA411030114 NM_152841.2:c.649G>A