Allele Registry

Canonical Allele Identifier: PA176321

Gene: HPS4 HGNC NCBI

ClinVar RCV:

RCV000150822

RCV000260978

RCV001519477

RCV001701685

RCV003544350

ClinVar Variation:

163674

2698863

HGVS (amino-acid)	Matching Registered Transcripts
NP_690054.1:p.Glu224Gly	CA176318 NM_152841.2:c.671A>G CA2697552595 NM_152841.2:c.671_672delinsGT