ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830389315
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1314818
ClinVar RCV Id:
RCV001765859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852124.1:p.Ile55Val
CA351113689
NM_181459.4:c.163A>G