ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830389224
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1430969
ClinVar RCV Id:
RCV001971959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852123.1:p.Gly394Glu
CA351115918
NM_181458.4:c.1181G>A