ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645425435
Gene: JAK2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004963.1:p.Arg683Gly
NM_004972.4:c.2047A>G