Canonical Allele Identifier: PA1139745023
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 949596
ClinVar RCV Id: RCV001221091
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366129.1:p.Met216Val
CA410682980
NM_001379200.1:c.646A>G