ClinGen Allele Registry
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Canonical Allele Identifier:
PA3065705078
Gene: JAK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002218.2:p.Pro429Ser
CA340671197
NM_002227.4:c.1285C>T