ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827142068
Gene: ADA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2531678
ClinVar RCV Id:
RCV003249980
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308980.1:p.Thr187Ile
CA409120827
NM_001322051.2:c.560C>T