ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827142061
Gene: ADA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1696220
ClinVar RCV Id:
RCV002266364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308980.1:p.Ile180Thr
CA409120875
NM_001322051.2:c.539T>C