ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160248
Gene: JAK3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000121269
RCV000433061
RCV000442628
RCV000550265
RCV003965016
ClinVar Variation:
134580
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000206.2:p.Pro132Thr
CA160246
NM_000215.4:c.394C>A