Canonical Allele Identifier: PA213505
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 35663
ClinVar RCV Id: RCV001546623 RCV001797591 RCV000029311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000374.1:p.Lys114Asn
CA213503
NM_000383.4:c.342G>T
CA410423646
NM_000383.4:c.342G>C