ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826578979
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2415067
ClinVar RCV Id:
RCV003110486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ile4362Thr
CA387505065
NM_001278055.2:c.13085T>C