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: PA2825783733

Gene: AHI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 128324

ClinVar RCV Id: RCV000116287 RCV000386088 RCV000987787 RCV001095102

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001128302.1:p.Arg830Trp	CA151702 NM_001134830.2:c.2488C>T