Canonical Allele Identifier: PA2829616085
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7567
ClinVar RCV Id: RCV000008003
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005983.1:p.His194Gln
CA254219
NM_005992.1:c.582C>G
CA410682814
NM_005992.1:c.582C>A