ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830389741
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228387
ClinVar RCV Id:
RCV000216335
RCV001092432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852125.1:p.Arg223Gln
CA10576591
NM_181460.4:c.668G>A