ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826158278
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_001177313.1:p.Leu493Phe
CA5056424
NM_001190384.3:c.1477C>T