ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828551545
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286014
ClinVar RCV Id:
RCV000494055
RCV001385137
RCV000675176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361727.1:p.Ala541Thr
CA10605332
NM_001374798.1:c.1621G>A