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: PA645478948

Gene: AHI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393223

ClinVar RCV Id: RCV000443953

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060121.3:p.Pro402Leu	CA16605460 NM_017651.5:c.1205C>T