ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828551569
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499322
ClinVar RCV Id:
RCV000595393
RCV000702554
RCV001834889
RCV003352934
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361727.1:p.Ala577Val
CA5056396
NM_001374798.1:c.1730C>T