ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829745833
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488035
ClinVar RCV Id:
RCV000626393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_039230.1:p.Pro50_Asn53del
CA658796186
NM_013942.5:c.149_160del