ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499247356
Gene: PAX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291498.1:p.Val284Ile
CA5650844
NM_001304569.2:c.850G>A