ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827087065
Gene: JAK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134542
ClinVar RCV Id:
RCV000121231
RCV001725975
RCV002055339
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308786.1:p.Val650Met
CA160140
NM_001321857.2:c.1948G>A