ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139671184
Gene: AIRE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000374.1:p.Pro398Leu
CA10051984
NM_000383.4:c.1193C>T