ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830389356
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
801902
ClinVar RCV Id:
RCV000987040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852124.1:p.His80Arg
CA351113520
NM_181459.4:c.239A>G