ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573183216
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1399940
ClinVar RCV Id:
RCV001917933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.Arg508His
CA5056481
NM_001128227.3:c.1523G>A