ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827082559
Gene: JAK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134548
ClinVar RCV Id:
RCV000121237
RCV001514178
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308781.1:p.Ile62Val
CA160152
NM_001321852.2:c.184A>G