ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828303739
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355859.1:p.Gln221_Ter222insLysLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA5933631
NM_001368930.2:c.664T>A