Canonical Allele Identifier: PA2827164685
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1684358
ClinVar RCV Id: RCV002245364 RCV003093961
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309410.1:p.Arg143His
CA5639317
NM_001322481.2:c.428G>A