ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827142074
Gene: ADA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308980.1:p.Ser192Asn
CA16608444
NM_001322051.2:c.575G>A