Allele Registry

Canonical Allele Identifier: PA213508

Gene: AIRE HGNC NCBI

ClinVar RCV:

RCV000029312

RCV000788159

RCV002509170

ClinVar Variation:

35664

HGVS (amino-acid)	Matching Registered Transcripts
NP_000374.1:p.Pro124Leu	CA213506 NM_000383.4:c.371C>T