ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828302382
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355853.1:p.Arg187Gln
CA379956701
NM_001368924.2:c.560G>A