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: PA2573184177

Gene: TBXAS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1385582

ClinVar RCV Id: RCV001871402

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159725.2:p.Thr503Met	CA4512024 NM_001166253.4:c.1508C>T