ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573163795
Gene: JAK3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000206.2:p.Arg1049Leu
CA404764109
NM_000215.4:c.3146G>T