ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA243358
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196410
ClinVar RCV Id:
RCV000177229
RCV000667198
RCV000852136
RCV001296886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.Tyr187His
CA243356
NM_001128227.3:c.559T>C