ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253710
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006403
RCV000724337
ClinVar Variation:
6032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177312.1:p.Ala460Val
CA253707
NM_001190383.3:c.1379C>T