ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828292871
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355817.1:p.Arg128Pro
CA379958366
NM_001368888.2:c.383G>C