ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826158537
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188847
ClinVar RCV Id:
RCV000169197
RCV000726859
RCV001041020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177317.2:p.Arg218Cys
CA274033
NM_001190388.2:c.652C>T