ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580109476
Gene: JAK3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2096020
ClinVar RCV Id:
RCV003013956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000206.2:p.Pro1114Ser
CA404762966
NM_000215.4:c.3340C>T