Canonical Allele Identifier: PA2828815640
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3228971
ClinVar RCV Id: RCV004522598
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366129.1:p.Pro248Ala
CA410683281
NM_001379200.1:c.742C>G