ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828550700
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498575
ClinVar RCV Id:
RCV000595256
RCV003465337
RCV003767363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361726.1:p.Ala540Thr
CA5056429
NM_001374797.1:c.1618G>A