ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253714
Gene: GNE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177317.1:p.Cys298Val
CA253712
NM_001190388.1:c.892_893delinsGT