ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645423795
Gene: GNE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000366622
RCV000688282
RCV001165683
RCV001165684
ClinVar Variation:
290219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.Val443Ile
CA5056555
NM_001128227.3:c.1327G>A