Allele Registry

Canonical Allele Identifier: PA151740

Gene: AIRE HGNC NCBI

ClinVar RCV:

RCV000116303

RCV000710497

RCV001271173

ClinVar Variation:

128340

HGVS (amino-acid)	Matching Registered Transcripts
NP_000374.1:p.Ser278Arg	CA151738 NM_000383.4:c.834C>G CA321793301 NM_000383.4:c.834C>A CA410424677 NM_000383.4:c.832A>C