ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828993998
Gene: STAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9045
ClinVar RCV Id:
RCV000009612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371812.1:p.Leu567Pro
CA120076
NM_001384883.1:c.1700T>C