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: PA2580317766

Gene: TUBA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2025728

ClinVar RCV Id: RCV002853369

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_006000.2:p.Val181Ala