ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253685
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6027
ClinVar RCV Id:
RCV000006398
RCV001385135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177312.1:p.Ala557Thr
CA253683
NM_001190383.3:c.1669G>A