ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829480117
Gene: PAX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2631749
ClinVar RCV Id:
RCV004531572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003980.3:p.Ser61Ile
CA378257698
NM_003989.5:c.182G>T