ClinGen Allele Registry
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Canonical Allele Identifier:
PA916019765
Gene: PAX2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000144385
RCV000504921
RCV001085420
RCV004544325
ClinVar Variation:
156301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291498.1:p.Ala342Val
CA233182
NM_001304569.2:c.1025C>T