ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825170832
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000004437
ClinVar Variation:
4216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000429.2:p.Tyr90His
CA116694
NM_000438.6:c.268T>C