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: PA916008714

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448200

ClinVar RCV Id: RCV000517189 RCV001829474

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Pro934Leu	CA246662431 NM_001278055.2:c.2801C>T