Canonical Allele Identifier: PA1139670762
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 967483
ClinVar RCV Id: RCV001242405
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000374.1:p.Ser250Cys
CA10051696
NM_000383.4:c.748A>T