Canonical Allele Identifier: PA2830126977
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2734972
ClinVar RCV Id: RCV003508835
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542378.1:p.Glu258Asp
CA410683417
NM_080647.1:c.774G>C
CA410683418
NM_080647.1:c.774G>T