ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825700525
Gene: GTPBP3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000436556
RCV001702641
RCV002061670
ClinVar Variation:
379977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122327.1:p.Val250Ala
CA9293483
NM_001128855.3:c.749T>C