Canonical Allele Identifier: PA2826931642
Gene: HPS3 HGNC NCBI

Linked Data

ClinVar Variation Id: 343713
ClinVar RCV Id: RCV000316729 RCV000931988 RCV001275850
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001295187.1:p.Arg733Cys
CA2660434
NM_001308258.2:c.2197C>T