ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826158294
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6035
ClinVar RCV Id:
RCV000006406
RCV000254883
RCV000763617
RCV004525844
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177313.1:p.Ala521Val
CA253717
NM_001190384.3:c.1562C>T