ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827142065
Gene: ADA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
556213
ClinVar RCV Id:
RCV000672186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308980.1:p.Glu186Lys
CA409120840
NM_001322051.2:c.556G>A