ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573159744
Gene: ADA
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002047570
ClinVar Variation:
1352394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000013.2:p.Met315Thr
CA9871459
NM_000022.3:c.944T>C