ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA230864
Gene: AIRE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128334
ClinVar RCV Id:
RCV000238916
RCV003430667
RCV001081188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000374.1:p.Val199Ile
CA230862
NM_000383.4:c.595G>A