ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA344239
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41233
ClinVar RCV Id:
RCV000343796
RCV000726858
RCV001060883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.Asp207Val
CA344238
NM_001128227.3:c.620A>T