ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828551263
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188847
ClinVar RCV Id:
RCV000169197
RCV000726859
RCV001041020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361727.1:p.Arg218Cys
CA274033
NM_001374798.1:c.652C>T