ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826577248
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2052695
ClinVar RCV Id:
RCV002937640
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Asp1939Val
CA246658298
NM_001278055.2:c.5816A>T