ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916077368
Gene: PAX3
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_852126.1:p.Pro50Leu
NM_181461.4:c.149C>T