Canonical Allele Identifier: PA2741879561
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_001366129.1:p.Glu267Asp
CA410683417
NM_001379200.1:c.801G>C
CA410683418
NM_001379200.1:c.801G>T