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: PA2826576524

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448199

ClinVar RCV Id: RCV000516574 RCV001081341 RCV001109615 RCV001848892 RCV001644611 RCV003905307

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Arg829Ser	CA6911590 NM_001278055.2:c.2485C>A