Canonical Allele Identifier: PA2827162092
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_001309405.1:p.Arg230His
CA5639317
NM_001322476.1:c.689G>A