Allele Registry

Canonical Allele Identifier: PA916030273

Gene: HPS4 HGNC NCBI

ClinVar RCV:

RCV000150821

RCV000371919

RCV001519476

RCV001701619

ClinVar Variation:

163673

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336830.1:p.Leu461Val	CA176313 NM_001349901.1:c.1381C>G