ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645466734
Gene: JAK3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000431542
ClinVar Variation:
376714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000206.2:p.Val715Ile
CA16603124
NM_000215.4:c.2143G>A