Canonical Allele Identifier: PA2830126167
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2734972
ClinVar RCV Id: RCV003508835
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542377.1:p.Glu258Asp
CA410683417
NM_080646.2:c.774G>C
CA410683418
NM_080646.2:c.774G>T