ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253718
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6035
ClinVar RCV Id:
RCV000006406
RCV000254883
RCV000763617
RCV004525844
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.Ala662Val
CA253717
NM_001128227.3:c.1985C>T