ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829588712
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1203461
ClinVar RCV Id:
RCV001569498
RCV001827498
RCV002570772
RCV003416398
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005467.1:p.Arg477Cys
CA5056482
NM_005476.7:c.1429C>T