ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829589032
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_005467.1:p.Ala591Thr
CA5056429
NM_005476.7:c.1771G>A