ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825170818
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30595
ClinVar RCV Id:
RCV000023560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000429.2:p.His80Asp
CA259837
NM_000438.6:c.238C>G