Canonical Allele Identifier: PA2741879551
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2630029
ClinVar RCV Id: RCV003391318
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366129.1:p.Met216Leu
CA410682978
NM_001379200.1:c.646A>C
CA410682981
NM_001379200.1:c.646A>T