ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828301093
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355848.1:p.Pro414Gln
CA5933676
NM_001368919.2:c.1241C>A