Canonical Allele Identifier: PA2829615960
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 488618
ClinVar RCV Id: RCV000578422 RCV000702287
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005983.1:p.Glu129Lys
CA410681809
NM_005992.1:c.385G>A