ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828550637
Gene: GNE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000599140
RCV001829691
ClinVar Variation:
503710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361726.1:p.Val521del
CA5056433
NM_001374797.1:c.1560_1562del