ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826475259
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245391.1:p.Gln436_Ter437insLysLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA5933631
NM_001258462.3:c.1309T>A