ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658804151
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000596934
RCV000671522
RCV001378882
ClinVar Variation:
497075
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.Phe559Cys
CA192843496
NM_001128227.3:c.1676T>G