ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA151722
Gene: AIRE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128332
ClinVar RCV Id:
RCV000116295
RCV000526170
RCV000514017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000374.1:p.Arg471Cys
CA151720
NM_000383.4:c.1411C>T