ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826158462
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2136776
ClinVar RCV Id:
RCV003062213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177317.2:p.Tyr127His
CA373418165
NM_001190388.2:c.379T>C