ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139692034
Gene: ADA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269158.1:p.Arg49Trp
CA410229558
NM_001282229.2:c.145C>T