ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830389258
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2373916
ClinVar RCV Id:
RCV002992973
RCV003984344
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852123.1:p.Thr456Ile
CA66330116
NM_181458.4:c.1367C>T