ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828299508
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355843.1:p.Thr381Ile
CA473563716
NM_001368914.2:c.1142C>T