ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830389559
Gene: PAX3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852124.1:p.Pro373Leu
CA2135497
NM_181459.4:c.1118C>T