ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830127574
Gene: TBX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1716532
ClinVar RCV Id:
RCV002303569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542378.1:p.Pro452Ser
CA410685219
NM_080647.1:c.1354C>T