ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253701
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6030
ClinVar RCV Id:
RCV000202425
RCV000725734
RCV001051696
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177312.1:p.Arg246Gln
CA253699
NM_001190383.3:c.737G>A