ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826578141
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311513
ClinVar RCV Id:
RCV000273799
RCV003750784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ile3208Arg
CA6910515
NM_001278055.2:c.9623T>G