ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826578339
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2184148
ClinVar RCV Id:
RCV002627940
RCV003349046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ile3480Ser
CA6910378
NM_001278055.2:c.10439T>G