ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580546166
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2168904
ClinVar RCV Id:
RCV003082804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852124.1:p.Pro450Ala
CA351115562
NM_181459.4:c.1348C>G