ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830389652
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2136213
ClinVar RCV Id:
RCV003037060
RCV003493976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852125.1:p.His80Tyr
CA351113523
NM_181460.4:c.238C>T