ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139729505
Gene: PAX8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054698.1:p.Glu234Lys
CA1840124
NM_013992.4:c.700G>A