ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826475050
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245391.1:p.Leu120Ser
CA379958520
NM_001258462.3:c.359T>C