ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826577912
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1906451
ClinVar RCV Id:
RCV002586925
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Arg2901Cys
CA6910661
NM_001278055.2:c.8701C>T