ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3076043060
Gene: JAK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004963.1:p.Arg683Lys
CA372827154
NM_004972.4:c.2048G>A