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: PA2825783608

Gene: AHI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217548

ClinVar RCV Id: RCV000201632 RCV000414742 RCV001051208

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001128302.1:p.Asp666Val	CA279428 NM_001134830.2:c.1997A>T