Canonical Allele Identifier: PA891856710
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 586784
ClinVar RCV Id: RCV000713778 RCV001248343
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542378.1:p.Pro486Gln
CA10102779
NM_080647.1:c.1457C>A