Canonical Allele Identifier: PA2580114152
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2002541
ClinVar RCV Id: RCV002832999

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000374.1:p.Ser339Arg
CA410425082
NM_000383.4:c.1015A>C
CA410425086
NM_000383.4:c.1017C>A
CA410425087
NM_000383.4:c.1017C>G