ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA256972
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_003979.2:p.Glu74_Thr75dup
CA256968
NM_003988.5:c.221_226dup