ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253689
Gene: GNE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177313.1:p.Val586Met
CA253688
NM_001190384.3:c.1756G>A