ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828302748
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355854.1:p.Gln369_Ter370insLysLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA5933631
NM_001368925.2:c.1108T>A