ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580114128
Gene: AIRE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2118806
ClinVar RCV Id:
RCV003032777
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000374.1:p.Lys245Arg
CA410424475
NM_000383.4:c.734A>G