ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826576630
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2160875
ClinVar RCV Id:
RCV003087761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ile1048Val
CA6911501
NM_001278055.2:c.3142A>G