Canonical Allele Identifier: PA658805201
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 518715
ClinVar RCV Id: RCV000618252 RCV000765609 RCV000876712 RCV001574708 RCV003479173
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542378.1:p.Gly350Asp
CA10102660
NM_080647.1:c.1049G>A