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: PA2825746422

Gene: TBXAS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1385582

ClinVar RCV Id: RCV001871402

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124438.2:p.Thr457Met	CA4512024 NM_001130966.5:c.1370C>T