ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828550798
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498627
ClinVar RCV Id:
RCV000593521
RCV001854024
RCV003459467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361726.1:p.Ser617Phe
CA373424635
NM_001374797.1:c.1850C>T