ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830389358
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133308
ClinVar RCV Id:
RCV000119819
RCV001854589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852124.1:p.Gly81Cys
CA269911
NM_181459.4:c.241G>T