ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645473814
Gene: AIRE
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000374.1:p.Glu53Ter
NM_000383.4:c.157G>T