ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803048
Gene: JAK3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
523048
ClinVar RCV Id:
RCV000626254
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000206.2:p.Pro1086Leu
CA306119713
NM_000215.4:c.3257C>T