ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115294
Gene: ADA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1979
ClinVar RCV Id:
RCV000002056
RCV000059105
RCV001531958
RCV001731271
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000013.2:p.Leu152Met
CA115292
NM_000022.3:c.454C>A