ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116226
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001595.2:p.Val140Asp
NM_001604.6:c.419T>A