Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2829616085

Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7567

ClinVar RCV Id: RCV000008003

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005983.1:p.His194Gln	CA254219 NM_005992.1:c.582C>G CA410682814 NM_005992.1:c.582C>A