ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827060260
Gene: JAK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134548
ClinVar RCV Id:
RCV000121237
RCV001514178
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307852.1:p.Ile62Val
CA160152
NM_001320923.2:c.184A>G