ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826577488
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
805304
ClinVar RCV Id:
RCV000992798
RCV001276937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Phe2274Tyr
CA387519683
NM_001278055.2:c.6821T>A