ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916077370
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4217
ClinVar RCV Id:
RCV000004438
RCV001375270
RCV002274876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852126.1:p.Arg56Leu
CA253050
NM_181461.4:c.167G>T