ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827083016
Gene: JAK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308781.1:p.Val658Phe
CA16602499
NM_001321852.2:c.1972G>T