Allele Registry

Canonical Allele Identifier: PA2829479935

Gene: PAX2 HGNC NCBI

ClinVar RCV:

RCV000641655

RCV002530004

RCV004533353

ClinVar Variation:

534188

HGVS (amino-acid)	Matching Registered Transcripts
NP_003979.2:p.Asn289Lys	CA5650881 NM_003988.5:c.867C>G CA378259392 NM_003988.5:c.867C>A