ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916019752
Gene: PAX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217287
ClinVar RCV Id:
RCV000240634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291498.1:p.Gly94Ser
CA10575801
NM_001304569.2:c.280G>A