ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828297324
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355834.1:p.Gln286_Ter287insLysLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA5933631
NM_001368905.2:c.859T>A