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: PA2825784790

Gene: AHI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 512616

ClinVar RCV Id: RCV000608290 RCV000861193 RCV001157000 RCV003980163

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001128303.1:p.Asp1179Tyr	CA4011960 NM_001134831.2:c.3535G>T