Allele Registry

Canonical Allele Identifier: PA176316

Gene: HPS4 HGNC NCBI

ClinVar RCV:

RCV000150821

RCV000371919

RCV001519476

RCV001701619

ClinVar Variation:

163673

HGVS (amino-acid)	Matching Registered Transcripts
NP_690054.1:p.Leu438Val	CA176313 NM_152841.2:c.1312C>G