ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828303620
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355858.1:p.Thr231Ile
CA473563716
NM_001368929.2:c.692C>T