Canonical Allele Identifier: PA2830127708
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 951216
ClinVar RCV Id: RCV001223075 RCV003163735 RCV003393895
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542378.1:p.Pro494Arg
CA10102788
NM_080647.1:c.1481C>G