ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580114239
Gene: AIRE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000374.1:p.Val479Met
CA10052130
NM_000383.4:c.1435G>A