Canonical Allele Identifier: PA2573166563
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1384493
ClinVar RCV Id: RCV001896042
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000374.1:p.Gly227Asp
CA321789212
NM_000383.4:c.680G>A
CA2573157691
NM_000383.4:c.680_681delinsAT