Canonical Allele Identifier: PA2830127489
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2747082
ClinVar RCV Id: RCV003506915
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542378.1:p.Asp424Glu
CA10102703
NM_080647.1:c.1272C>A
CA410684891
NM_080647.1:c.1272C>G