ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830389001
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1416595
ClinVar RCV Id:
RCV001935784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852123.1:p.Met128Val
CA2135754
NM_181458.4:c.382A>G