ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830389319
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2556551
ClinVar RCV Id:
RCV003304405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852124.1:p.Lys58Arg
CA351113667
NM_181459.4:c.173A>G