ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827087063
Gene: JAK1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000418735
ClinVar Variation:
376099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308786.1:p.Ser645Phe
CA892794
NM_001321857.2:c.1934C>T