ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827087100
Gene: JAK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308786.1:p.Ser702Ile
CA340667333
NM_001321857.2:c.2105G>T