Canonical Allele Identifier: PA2573076056
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_001366129.1:p.Pro495Gln
CA10102779
NM_001379200.1:c.1484C>A