ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830389673
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000004437
ClinVar Variation:
4216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852125.1:p.Tyr90His
CA116694
NM_181460.4:c.268T>C