ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828994247
Gene: STAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
144006
ClinVar RCV Id:
RCV000133515
RCV000698604
RCV000735313
RCV000735320
RCV001027623
RCV001090648
RCV003156074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371813.1:p.Thr387Met
CA170572
NM_001384884.1:c.1160C>T