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: PA2825784978

Gene: AHI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 260861

ClinVar RCV Id: RCV000246201 RCV000443752 RCV001079300 RCV001157232 RCV003891955

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001128304.1:p.Pro242Ser	CA4012775 NM_001134832.2:c.724C>T