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: PA2826578837

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2713435

ClinVar RCV Id: RCV003590565

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Asn4154Ser	CA6910054 NM_001278055.2:c.12461A>G