ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830388842
Gene: PAX3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852122.1:p.Pro382His
CA2135489
NM_181457.4:c.1145C>A