ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826896260
Gene: PAX2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000549890
RCV001783049
ClinVar Variation:
465775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291498.1:p.Pro111Leu
CA378257841
NM_001304569.2:c.332C>T