ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827142088
Gene: ADA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000002057
RCV000059113
ClinVar Variation:
1980
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308980.1:p.Thr209Ile
CA115295
NM_001322051.2:c.626C>T