ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826577169
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311537
ClinVar RCV Id:
RCV000312333
RCV000995036
RCV002522277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Val1831Ile
CA6911169
NM_001278055.2:c.5491G>A