Allele Registry

Canonical Allele Identifier: PA2827469463

Gene: HPS4 HGNC NCBI

ClinVar RCV:

RCV001960479

ClinVar Variation:

1443297

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336832.1:p.Glu222Lys	CA411030114 NM_001349903.2:c.664G>A