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: PA2826577361

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 240901

ClinVar RCV Id: RCV000260358 RCV000516875 RCV001081244 RCV001847976 RCV003929986

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Leu2114Ile	CA6911032 NM_001278055.2:c.6340C>A