ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107224
Gene: PAX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000271.1:p.Val126Asp
NM_000280.6:c.377T>A