ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825138347
Gene: PAX2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000014811
RCV001377629
ClinVar Variation:
13800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000269.3:p.Glu74_Thr75dup
CA256968
NM_000278.5:c.221_226dup