ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825898259
Gene: GATA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1350728
ClinVar RCV Id:
RCV002042085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139134.1:p.Pro447Ser
CA354412577
NM_001145662.1:c.1339C>T