ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580412378
Gene: TBX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2199042
ClinVar RCV Id:
RCV002634074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057653.3:p.Ala377Pro
CA6810007
NM_016569.4:c.1129G>C