ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139690673
Gene: PAX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291498.1:p.Arg171Leu
CA378258256
NM_001304569.2:c.512G>T