Allele Registry

Canonical Allele Identifier: PA2830297296

Gene: HPS4 HGNC NCBI

ClinVar RCV:

RCV000004345

RCV001851643

RCV003488323

ClinVar Variation:

4129

HGVS (amino-acid)	Matching Registered Transcripts
NP_690054.1:p.Ala312_Glu319dup