ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826576624
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311548
ClinVar RCV Id:
RCV000383585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Met1039Thr
CA10634058
NM_001278055.2:c.3116T>C