ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825005198
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_000013.2:p.Ile180Thr
CA409120875
NM_000022.3:c.539T>C