ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828551220
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197184
ClinVar RCV Id:
RCV000178150
RCV000700059
RCV000984181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361727.1:p.Arg187Trp
CA275247
NM_001374798.1:c.559C>T