ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828551496
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
581094
ClinVar RCV Id:
RCV000704818
RCV001167797
RCV001167796
RCV001726313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361727.1:p.Gly488Cys
CA373425910
NM_001374798.1:c.1462G>T