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: PA253519

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 5520

ClinVar RCV Id: RCV000005855

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Phe907Ser	CA253518 NM_001278055.2:c.2720T>C