ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826931609
Gene: HPS3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
756752
ClinVar RCV Id:
RCV000934277
RCV001144197
RCV001273478
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295187.1:p.Val678Ile
CA2660386
NM_001308258.2:c.2032G>A