ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829479417
Gene: PAX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
465775
ClinVar RCV Id:
RCV000549890
RCV001783049
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003978.3:p.Pro80Leu
CA378257841
NM_003987.5:c.239C>T