ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829479666
Gene: PAX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1060180
ClinVar RCV Id:
RCV001369569
RCV004528489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003979.2:p.Gly24Ala
CA378257468
NM_003988.5:c.71G>C