×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826158842
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6027
ClinVar RCV Id:
RCV000006398
RCV001385135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177317.2:p.Ala572Thr
CA253683
NM_001190388.2:c.1714G>A