ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA251995
Gene: ADA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000002031
RCV000247281
RCV001711065
ClinVar Variation:
1954
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000013.2:p.Lys80Arg
CA251993
NM_000022.3:c.239A>G