ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830388947
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
547734
ClinVar RCV Id:
RCV000660202
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852123.1:p.Leu76Arg
CA351113543
NM_181458.4:c.227T>G