ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829588188
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283114
ClinVar RCV Id:
RCV000266878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005467.1:p.Leu190Phe
CA10604401
NM_005476.7:c.568C>T