ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573196271
Gene: PAX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291498.1:p.Thr200Met
CA5650751
NM_001304569.2:c.599C>T