ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA253689
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000202424
RCV000255973
RCV000763616
RCV001167212
RCV003415667
ClinVar Variation:
6028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177313.1:p.Val586Met
CA253688
NM_001190384.3:c.1756G>A