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: PA916054918

Gene: AHI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217532

ClinVar RCV Id: RCV000201566 RCV001091216 RCV001240194 RCV003407712

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060121.3:p.His896Arg	CA279374 NM_017651.5:c.2687A>G