ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829588441
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281291
ClinVar RCV Id:
RCV000344814
RCV001208464
RCV001833307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005467.1:p.Arg335Trp
CA5056603
NM_005476.7:c.1003C>T