ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826577466
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2417847
ClinVar RCV Id:
RCV003117956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Thr2249Ala
CA387519853
NM_001278055.2:c.6745A>G