ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916012809
Gene: ADA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375246
ClinVar RCV Id:
RCV000416313
RCV000652051
RCV000997858
RCV002263670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269157.1:p.Arg7Trp
CA10088314
NM_001282228.2:c.19C>T