ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573069844
Gene: PAX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1333274
ClinVar RCV Id:
RCV001807962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291498.1:p.Arg90Trp
CA378257683
NM_001304569.2:c.268C>T