Canonical Allele Identifier: PA2580479182
Gene: HPS3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2139351
ClinVar RCV Id: RCV003066573

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_115759.2:p.Lys372Arg
CA2659998
NM_032383.5:c.1115A>G