ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA274035
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_001121699.1:p.Arg308Cys
CA274033
NM_001128227.3:c.922C>T