ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828550009
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3100615
ClinVar RCV Id:
RCV004395492
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361726.1:p.Ala192Thr
CA373418081
NM_001374797.1:c.574G>A