ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829480405
Gene: PAX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1333274
ClinVar RCV Id:
RCV001807962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003981.3:p.Arg59Trp
CA378257683
NM_003990.5:c.175C>T