ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828550749
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499322
ClinVar RCV Id:
RCV000595393
RCV000702554
RCV001834889
RCV003352934
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361726.1:p.Ala585Val
CA5056396
NM_001374797.1:c.1754C>T