ClinGen Allele Registry
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Canonical Allele Identifier:
PA160197
Gene: JAK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004963.1:p.Leu393Val
CA160195
NM_004972.4:c.1177C>G