ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827082989
Gene: JAK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308781.1:p.Ala634Asp
CA358587
NM_001321852.2:c.1901C>A