ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828550571
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497075
ClinVar RCV Id:
RCV000596934
RCV000671522
RCV001378882
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361726.1:p.Phe477Cys
CA192843496
NM_001374797.1:c.1430T>G