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: PA2830068592

Gene: TBXAS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372893

ClinVar RCV Id: RCV000413403

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_112246.3:p.Asp298_Ile299del	CA16042663 NM_030984.6:c.893_898del