ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916077369
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488035
ClinVar RCV Id:
RCV000626393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852126.1:p.Pro50_Asn53del
CA658796186
NM_181461.4:c.149_160del