ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916077403
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4216
ClinVar RCV Id:
RCV000004437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852126.1:p.Tyr90His
CA116694
NM_181461.4:c.268T>C