ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828292618
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355816.1:p.Pro235Thr
CA379956736
NM_001368887.2:c.703C>A