ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA233183
Gene: PAX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000269.2:p.Ala311Val
CA233182
NM_000278.3:c.932C>T