ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026491
Gene: ADA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1954
ClinVar RCV Id:
RCV000002031
RCV000247281
RCV001711065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308980.1:p.Lys80Arg
CA251993
NM_001322051.2:c.239A>G