ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580546216
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1695782
ClinVar RCV Id:
RCV002265417
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852126.1:p.Pro244His
CA351112345
NM_181461.4:c.731C>A