Allele Registry

Canonical Allele Identifier: PA2829479407

Gene: PAX2 HGNC NCBI

ClinVar RCV:

RCV000014811

RCV001377629

ClinVar Variation:

13800

HGVS (amino-acid)	Matching Registered Transcripts
NP_003978.3:p.Glu74_Thr75dup	CA256968 NM_003987.5:c.221_226dup