ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829589116
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283229
ClinVar RCV Id:
RCV000296082
RCV000664508
RCV001247004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005467.1:p.Leu603Phe
CA5056424
NM_005476.7:c.1807C>T