Canonical Allele Identifier: PA2827168137
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1942728
ClinVar RCV Id: RCV002646948
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309421.1:p.Ala191Pro
CA378052180
NM_001322492.2:c.571G>C