ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830246820
Gene: GTPBP3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001982444
ClinVar Variation:
1444495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_598399.2:p.Gly47Asp
CA404731695
NM_133644.4:c.140G>A