ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828298569
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355840.1:p.Thr382Ile
CA473563716
NM_001368911.2:c.1145C>T