ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916047384
Gene: PAX6
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001355849.1:p.Gly89Val
NM_001368920.2:c.266G>T