ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828551286
Gene: GNE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000592708
ClinVar Variation:
498574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361727.1:p.Arg247Gln
CA373430587
NM_001374798.1:c.740G>A