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: PA2826577557

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2189751

ClinVar RCV Id: RCV002636882 RCV004070522

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Glu2360Gly	CA387518857 NM_001278055.2:c.7079A>G