ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828294545
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355822.1:p.Arg142Cys
CA116221
NM_001368893.2:c.424C>T