ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826940004
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001297087.1:p.Ala113Thr
CA379958570
NM_001310158.2:c.337G>A