ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830389368
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4212
ClinVar RCV Id:
RCV000004432
RCV000004433
RCV003555913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852124.1:p.Ser84Phe
CA116691
NM_181459.4:c.251C>T