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: PA916014085

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 806986

ClinVar RCV Id: RCV000995035 RCV001115057 RCV001242408 RCV001847126

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Glu2384Lys	CA6910963 NM_014363.6:c.7150G>A