ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658804139
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498277
ClinVar RCV Id:
RCV000597115
RCV003465336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.Arg352Cys
CA373430492
NM_001128227.3:c.1054C>T