ClinGen Allele Registry
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Canonical Allele Identifier:
PA658818792
Gene: ADA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000169759
RCV001386673
RCV002460949
RCV002485053
ClinVar Variation:
189343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269154.1:p.Gly383Ser
CA199245
NM_001282225.2:c.1147G>A