Canonical Allele Identifier: PA2580109412
Gene: JAK3 HGNC NCBI
ClinVar RCV:
RCV002918566
ClinVar Variation:
2048132
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000206.2:p.Asn1002del
CA783874135
NM_000215.4:c.3005_3007del