ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826940452
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001297088.1:p.Arg240Gln
CA379956701
NM_001310159.1:c.719G>A