ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160227
Gene: JAK3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000121262
RCV000418338
RCV000436031
RCV000558788
RCV001357996
RCV003915209
ClinVar Variation:
134573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000206.2:p.Val722Ile
CA160225
NM_000215.4:c.2164G>A