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: PA2825783730

Gene: AHI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1993474

ClinVar RCV Id: RCV002814609

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001128302.1:p.Asp828Glu	CA4012371 NM_001134830.2:c.2484T>A CA365742543 NM_001134830.2:c.2484T>G