ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826158647
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000366622
RCV000688282
RCV001165683
RCV001165684
ClinVar Variation:
290219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177317.2:p.Val353Ile
CA5056555
NM_001190388.2:c.1057G>A