ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826576416
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311555
ClinVar RCV Id:
RCV000309988
RCV000529780
RCV000517722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Glu686Lys
CA6911678
NM_001278055.2:c.2056G>A