Canonical Allele Identifier: PA2827163710
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1942728
ClinVar RCV Id: RCV002646948
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309408.1:p.Arg230Pro
CA378052180
NM_001322479.1:c.689G>C