ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828995338
Gene: STAT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371816.1:p.Lys606Glu
CA170728
NM_001384887.1:c.1816A>G