ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828551280
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498387
ClinVar RCV Id:
RCV000597462
RCV000726827
RCV002476292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361727.1:p.Ile239Thr
CA5056641
NM_001374798.1:c.716T>C