ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828551497
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
575796
ClinVar RCV Id:
RCV000698114
RCV001825370
RCV004526016
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361727.1:p.Gly488Ser
CA373425912
NM_001374798.1:c.1462G>A