ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115291
Gene: ADA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1973
ClinVar RCV Id:
RCV000002050
RCV000351193
RCV000508187
RCV001668121
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000013.2:p.Asp8Asn
CA115289
NM_000022.3:c.22G>A