ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827083826
Gene: JAK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308782.1:p.Val658Ile
CA340667803
NM_001321853.2:c.1972G>A