ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829480138
Gene: PAX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2683957
ClinVar RCV Id:
RCV003484558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003980.3:p.Arg71Met
CA378257764
NM_003989.5:c.212G>T