ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580412380
Gene: TBX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2012012
ClinVar RCV Id:
RCV002856132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057653.3:p.Glu383Lys
CA386869645
NM_016569.4:c.1147G>A