ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825897073
Gene: GATA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1058258
ClinVar RCV Id:
RCV001367369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139133.1:p.Thr347Ile
CA354413668
NM_001145661.2:c.1040C>T