ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026475
Gene: ADA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1966
ClinVar RCV Id:
RCV000002043
RCV000059111
RCV002298431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308979.1:p.Arg76Cys
CA115285
NM_001322050.2:c.226C>T