ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA243357
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_005467.1:p.Tyr156His
CA243356
NM_005476.7:c.466T>C