ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825138790
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000271.1:p.Gln422_Ter423insLysLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA5933631
NM_000280.6:c.1267T>A