Canonical Allele Identifier: PA2827470603
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2178438

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336833.1:p.Arg473Cys
CA10163327
NM_001349904.2:c.1417C>T