ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829479388
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_003978.3:p.Gly63Ser
CA10575801
NM_003987.5:c.187G>A