ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA106237
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4206
ClinVar RCV Id:
RCV000004426
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852122.1:p.Pro50Leu
CA253048
NM_181457.4:c.149C>T