ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828294764
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355823.1:p.Ala37Pro
CA379959525
NM_001368894.2:c.109G>C