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: PA2580243717

Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2016762

ClinVar RCV Id: RCV002851739

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366129.1:p.His466dup	CA10102733 NM_001379200.1:c.1397_1399dup