Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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Canonical Allele Identifier: PA2580193310

Gene: PAX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2087854

ClinVar RCV Id: RCV003009771

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001291498.1:p.Ser97Arg	CA378257728 NM_001304569.2:c.289A>C CA378257734 NM_001304569.2:c.291C>A CA378257735 NM_001304569.2:c.291C>G