ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828298502
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355840.1:p.Pro250Thr
CA379956736
NM_001368911.2:c.748C>A