Canonical Allele Identifier: PA2829964956
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2095291
ClinVar RCV Id: RCV003013757
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_071364.4:p.Val494Ile
CA10163313
NM_022081.5:c.1480G>A