ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826158824
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000296082
RCV000664508
RCV001247004
ClinVar Variation:
283229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177317.2:p.Leu544Phe
CA5056424
NM_001190388.2:c.1630C>T