ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580229144
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355839.1:p.Leu187Ser
CA379958520
NM_001368910.2:c.560T>C