ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828550005
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283114
ClinVar RCV Id:
RCV000266878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361726.1:p.Leu190Phe
CA10604401
NM_001374797.1:c.568C>T