ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825603795
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4214
ClinVar RCV Id:
RCV000004435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120838.1:p.Asn47His
CA116693
NM_001127366.3:c.139A>C