ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916047353
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355840.1:p.Ser44Phe
CA379959482
NM_001368911.2:c.131C>T