ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573183294
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1387715
ClinVar RCV Id:
RCV001875647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.Lys633Gln
CA373425490
NM_001128227.3:c.1897A>C