ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826158208
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000487445
RCV000763619
RCV003139687
ClinVar Variation:
424619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177313.1:p.Ala414Val
CA5056466
NM_001190384.3:c.1241C>T