ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091213
Gene: ADA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000002047
RCV000780816
RCV001588796
ClinVar Variation:
1970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000013.2:p.Arg156Cys
CA252011
NM_000022.3:c.466C>T