Canonical Allele Identifier: PA2499231890
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1217643
ClinVar RCV Id: RCV001589902 RCV001729959
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000374.1:p.Gly306Arg
CA10051858
NM_000383.4:c.916G>A
CA410424866
NM_000383.4:c.916G>C