ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645386812
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_115759.2:p.Ile456Val
CA2660071
NM_032383.5:c.1366A>G