Canonical Allele Identifier: PA2827464296
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2379255
ClinVar RCV Id: RCV002684231

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336825.1:p.Glu639Lys
CA411023872
NM_001349896.1:c.1915G>A