ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826157771
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498575
ClinVar RCV Id:
RCV000595256
RCV003465337
RCV003767363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177312.1:p.Ala517Thr
CA5056429
NM_001190383.3:c.1549G>A