ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573163655
Gene: JAK3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1473539
ClinVar RCV Id:
RCV001969559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000206.2:p.Arg175Gln
CA9302143
NM_000215.4:c.524G>A