ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825898059
Gene: GATA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001542116
ClinVar Variation:
1184156
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139134.1:p.Arg347His
CA354413576
NM_001145662.1:c.1040G>A