ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828296223
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355828.1:p.Pro239Gln
CA5933676
NM_001368899.2:c.716C>A