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: PA2826949743

Gene: TBXAS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372893

ClinVar RCV Id: RCV000413403

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001300957.1:p.Asp279_Ile280del	CA16042663 NM_001314028.4:c.836_841del