ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829588870
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1064281
ClinVar RCV Id:
RCV001374233
RCV001831331
RCV003132486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005467.1:p.Ile541Thr
CA5056460
NM_005476.7:c.1622T>C