Allele Registry

Canonical Allele Identifier: PA2827463648

Gene: HPS4 HGNC NCBI

ClinVar RCV:

RCV000150822

RCV000260978

RCV001519477

RCV001701685

RCV003544350

ClinVar Variation:

163674

2698863

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336825.1:p.Glu229Gly	CA176318 NM_001349896.1:c.686A>G CA2697552595 NM_001349896.1:c.686_687delinsGT