Canonical Allele Identifier: PA2830388919
Gene: PAX3 HGNC NCBI
ClinVar RCV:
RCV000004426
ClinVar Variation:
4206
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_852123.1:p.Pro50Leu
CA253048
NM_181458.4:c.149C>T