ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580546191
Gene: PAX3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852126.1:p.His80Tyr
CA351113523
NM_181461.4:c.238C>T