ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829480294
Gene: PAX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003980.3:p.Val253Ile
CA5650844
NM_003989.5:c.757G>A