Canonical Allele Identifier: PA2580214225
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2185601
ClinVar RCV Id: RCV002632536
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309421.1:p.Thr214Arg
CA378051896
NM_001322492.2:c.641C>G