Canonical Allele Identifier: PA2499231881
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1017041
ClinVar RCV Id: RCV001316132
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000374.1:p.Pro176Leu
CA10051594
NM_000383.4:c.527C>T