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: PA916008692

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 586430

ClinVar RCV Id: RCV000712973 RCV001271966 RCV002532945

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.His859Arg	CA6911578 NM_001278055.2:c.2576A>G