ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA199244
Gene: ADA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189342
ClinVar RCV Id:
RCV000169758
RCV000851530
RCV002287375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269156.1:p.Thr318Ala
CA199242
NM_001282227.2:c.952A>G