ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115294
Gene: ADA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000013.2:p.Leu152Met
NM_000022.3:c.454C>A