ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830093054
Gene: GTPBP3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002304295
ClinVar Variation:
1713717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116009.2:p.Ala10Val
CA404730479
NM_032620.4:c.29C>T