ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828551523
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290739
ClinVar RCV Id:
RCV000339858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361727.1:p.Pro518Thr
CA10606897
NM_001374798.1:c.1552C>A