ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741816785
Gene: AIRE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2818511
ClinVar RCV Id:
RCV003637175
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000374.1:p.Ser248Gly
CA410424488
NM_000383.4:c.742A>G