Allele Registry

Canonical Allele Identifier: PA645466704

Gene: JAK3 HGNC NCBI

ClinVar RCV:

RCV000441083

RCV001861508

ClinVar Variation:

381576

HGVS (amino-acid)	Matching Registered Transcripts
NP_000206.2:p.Arg117Cys	CA16608977 NM_000215.4:c.349C>T