ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828300244
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355846.1:p.Val78Glu
CA379958779
NM_001368917.2:c.233T>A