ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828293501
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355819.1:p.Arg92Gln
CA5933924
NM_001368890.2:c.275G>A