Canonical Allele Identifier: PA2829554182
Gene: TBX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 100633
ClinVar RCV Id: RCV000087033 RCV002269823
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004599.2:p.Tyr436_Ter437insCysThrThrAlaGlyProLeuCysLeuHisHisLysProProAlaProPheProGlnProTrpSerProLeuThrSerThrGlyProIleProHisThrLysTrpProProTrpAlaCysProProThrProSerThrSerHisLeuAspPheThrProThrProLeuTrpLeuGlnSerLeuThrLysAlaAlaGlySerProAlaGlyAlaGlyPheProPheProAlaLeuThrSerVal
CA150573
NM_004608.4:c.1311A>T
CA395511942
NM_004608.4:c.1311A>C