ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826940571
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001297089.1:p.Gln75Arg
CA379956918
NM_001310160.2:c.224A>G