ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830389651
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30595
ClinVar RCV Id:
RCV000023560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852125.1:p.His80Asp
CA259837
NM_181460.4:c.238C>G