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: PA2826578861

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 527992

ClinVar RCV Id: RCV000633036

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.His4190Asp	CA387506211 NM_001278055.2:c.12568C>G