ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091211
Gene: ADA
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000002040
RCV000059104
RCV002307352
ClinVar Variation:
1963
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000013.2:p.Arg149Gln
CA115281
NM_000022.3:c.446G>A