ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827083814
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_001308782.1:p.Val651Met
CA160140
NM_001321853.2:c.1951G>A