Canonical Allele Identifier: PA658747918
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 488618
ClinVar RCV Id: RCV000578422 RCV000702287
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542378.1:p.Glu129Lys
CA410681809
NM_080647.1:c.385G>A