ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091212
Gene: ADA
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059103
ClinVar Variation:
68264
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000013.2:p.Arg149Trp
CA266014
NM_000022.3:c.445C>T