ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573196261
Gene: PAX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291498.1:p.Pro180Ser
CA378258315
NM_001304569.2:c.538C>T