ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139684708
Gene: JAK3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001122648
ClinVar Variation:
888995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000206.2:p.Arg925Cys
CA9301513
NM_000215.4:c.2773C>T