Canonical Allele Identifier: PA2827167928
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_001309420.1:p.Arg230His
CA5639317
NM_001322491.2:c.689G>A