ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826931384
Gene: HPS3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
343705
ClinVar RCV Id:
RCV000401104
RCV000891475
RCV001275841
RCV001821040
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295187.1:p.Ile291Val
CA2660071
NM_001308258.2:c.871A>G