ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139751482
Gene: GATA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
952553
ClinVar RCV Id:
RCV001224679
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116027.2:p.Ala478Val
CA354412392
NM_032638.5:c.1433C>T