Canonical Allele Identifier: PA2741879634
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_001366129.1:p.Asp433Glu
CA10102703
NM_001379200.1:c.1299C>A
CA410684891
NM_001379200.1:c.1299C>G