ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580109429
Gene: JAK3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2009566
ClinVar RCV Id:
RCV002842490
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000206.2:p.Leu1054Met
CA9301406
NM_000215.4:c.3160C>A