Allele Registry

Canonical Allele Identifier: PA2827470532

Gene: HPS4 HGNC NCBI

ClinVar RCV:

RCV000150821

RCV000371919

RCV001519476

RCV001701619

ClinVar Variation:

163673

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336833.1:p.Leu443Val	CA176313 NM_001349904.2:c.1327C>G