ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826577713
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411694
ClinVar RCV Id:
RCV000473308
RCV000594324
RCV000765121
RCV001848817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ile2602Val
CA6910801
NM_001278055.2:c.7804A>G