ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139765387
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
995911
ClinVar RCV Id:
RCV001290143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852126.1:p.Gly81Arg
CA2135792
NM_181461.4:c.241G>C