ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658832107
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
558623
ClinVar RCV Id:
RCV000674921
RCV001318626
RCV001784298
RCV003117482
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.Ile231Phe
CA5056708
NM_001128227.3:c.691A>T