ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828550565
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424619
ClinVar RCV Id:
RCV000487445
RCV000763619
RCV003139687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361726.1:p.Ala473Val
CA5056466
NM_001374797.1:c.1418C>T