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: PA645479048

Gene: AHI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 355495

ClinVar RCV Id: RCV000310232 RCV001309958 RCV002523549

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060121.3:p.Arg1181Gln	CA4011958 NM_017651.5:c.3542G>A